Neurology

Genetic studies can help to correctly diagnose patients with hereditary neurological diseases such as movement disorders, neuromuscular alterations, intellectual disability or epilepsy, among others, and make it possible to start treatment early and modify the course of the disease.

All genes included in each of our targeted exomes are clinically highly relevant and have been selected from information contained in reference databases such as OMIM, HGMD, ClinVar and HPO, and in the most recent scientific literature.

DESCRIPTION

The term 'movement disorders' refers to a group of nervous system conditions that cause an increase in abnormal movements, which may be voluntary or involuntary. Movement disorders can also cause slow or reduced movements. We offer the study of the main movement disorders such as dystonia and Parkinson's disease.

Parkinson's disease

ATP13A2, COQ2, DNAJC6, FBXO7, GBA, LRRK2, MAPT, PARK7 (DJ1), PINK1, PRKN, PODXL, SLC6A3, SNCA, SYNJ1, VPS13C, VPS35
GBA, LRRK2, PARK7 (DJ1), PINK1, PRKN, SNCA, VPS13C, VPS35
ATP13A2,DJ1, DNAJC6, FBXO7, GBA, PINK1, PODXL, PRKN, SLC6A3, SYNJ1, VPS13C

Parkinsonian disorders

ATP6AP2, COQ2, DCTN1, GCH1, LRRK2, LYST, MAPT, NUS1, OPA1, PLA2G6, PTRHD1, RAB39B, SPG11, TWNK, ZFYVE26, SYNJ1, VPS13C

Dystonia

ANO3, ADAR, ARSA, ATN1, ATP13A2, ATP1A3, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, ECHS1, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GNAL, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, KMT2B, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKN, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SPR, SUCLA2, TAF1, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TUBB4, VPS13A, WDR45, XK, XPR1
ANO3, GNAL, KMT2B, THAP1, TOR1A, TUBB4
ATP1A3, GCH1, SPR, TAF1, TH.
ADAR, ARSA, ATN1, ATP13A2, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GLB1, GM2A, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PARK2, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1 POLG, PPT1, PRKN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SLC19A3, SLC20A2, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SUCLA2, TIMM8A, TPP1, TREX1, VPS13A, WDR45, XK, XPR1.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Dementia is an umbrella term that describes a wide range of symptoms associated with memory impairement and other thinking skills, leading to a reduction in a person's ability to carry out daily activities. Alzheimer's disease accounts for 60-80% of cases. The study of genes associated with different types of dementia is included.

APP, APOE (e4 allele), C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP
APP, APOE (e4 allele), C9orf72, GRN, MAPT, PSEN1, PSEN2, TREM2
MAPT, PSEN1, PSEN2, TREM2
C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP

CHARACTERISTICS

DESCRIPTION

Neuromuscular diseases are a group of more than 150 progressive and chronic neurological conditions, mostly of genetic origin, which cause loss of muscle strength and associated muscle and nerve degeneration. Through the different panels we address the study of various neuromuscular diseases such as neuropathies, myopathies and muscular dystrophies, diseases with motor neuron involvement and myasthenic syndromes as well as other syndromes with hypotonia, myotonia and/or weakness.

Motor neurone disease

AGTPBP1, ALS2, ANG, ANXA11, ATXN2, AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, C9ORF72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, DES, DNAJB2, DYNC1H1, EPHA4, ERBB4, ERLIN2, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4, FUS, GARS1, GLE1, GLT8D1, HNRNPA1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, MATR3, MOBP, MYH14, NAIP, NEFH,NEK1, OPTN, PFN1, PLEKHG5, PON1, PON2, PON3, PPARGC1A, PRPH, REEP1, SCFD1, SEPSECS SETX, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBCE, TBK1, TREM2, TRIP4, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TUBA4A, UBA1, UBQLN2, UNC13A, VAPB, VCP, VRK1, VWA1.
ALS2, ANG, ANXA11, ATXN2, C9orf72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, EPHA4, ERBB4, FIG4, FUS, GLE1, GLT8D1, HNRNPA1, MATR3, MOBP, NEFH,NEK1, OPTN, PFN1, PON1, PON2, PON3, PPARGC1A, PRPH, SCFD1, SETX, SIGMAR1, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, UNC13A, VAPB, VCP.
C9ORF72, CHCHD10, FUS, SQSTM1, TARDBP, TBK1, VCP.

Neuropathies

AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1, AP1S1, APOA1, APTX, AR, ARHGEF10, ARSA, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CD59, CHCHD10, CLCF1, CNTNAP1, COA7, COX10, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, DARS2, DCTN1, DCTN2, DCAF8, DGAT2, DEGS1, DHTKD1, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, ETFDH, FAH, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FLRT1, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXB, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, IARS2, IBA57, IGHMBP2, INF2, JPH1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NDRG1, NEFH, NEFL, NGF, NOD2, NTRK1, OPA1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTRH2, RAB7A, RAI1, REEP1, RETREG1, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SORD, SOX5, SOX10, SPAST, SPTAN1, SPG11, SPG7, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TFG, TRIM2, TRIP4, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XRCC1, YARS1, ZFYVE26.
AARS1, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CNTNAP1, COA7, COX6A1, CTDP1, DCTN1, DCTN2, DCAF8, DGAT2, DHTKD1, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FBLN5, FBXO38, FGD4, FIG4, FLRT1,FXN, GAN, GARS1, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IBA57, IGHMBP2, INF2, KARS1, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, NAGLU, NDRG1, NEFH, NEFL OPA1, PDK3, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, RAI1, SBF1, SBF2, SCO2, SCYL1,SETX, SH3TC2, SIGMAR1, SGPL1, SLC12A6, , SLC25A46, SLC52A2, SLC52A3, , SORD, SOX5, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1, YARS1
AARS, AGTPBP1, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, FBXO38, GARS, GSN, HARS, HEXB, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, MFN2, MORC2, PLEKHG5, REEP1, SETX, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SPTAN1, SYT2, TFG, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS1.
ATL1, ATL3, DNMT1, DST, RETREG1, ELP1, KIF1A, NGF, NTRK1, PRDM12, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK.

Congenital Myasthenia

AGRN, AK9, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DES, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MACF1, MUSK, MYO9A, PLEC, PREPL, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1.

Myopathies

AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, ANO5, B3GALNT2, B4GAT1, BCS1L, BIN1, BVES, C1QBP, CACNA1S, CAPN3, CASQ1, CAVIN1, CCDC174, CCDC78, CFL2, CHCHD10, CHKB, CNBP, CNTN1, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, COQ9, COX10, COX15, COX6A2, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DMPK, DNA2, DNAJB6, DNM2, DNMT3B, DPM2, DPM3, DUX4, DYSF, EARS2, ECHS1, EMD, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FHL1, FKRP, FKTN, FLAD1, FLNC, FOXRED1, FRG1, GAA, GBE1, GFER, GIPC1, GMPPB, GNE, GYG1, GYS1, HACD1, HADHA, HADHB, HNRNPDL, HSPG2, ISCU, ITGA7, KIF21A, KLHL40, KLHL41, LAMA2, LARGE1, LDB3, LDHA, LIG3, LIMS2, LMNA, LMOD3, LPIN1, LTBP4, MAMLD1, MAP3K20, MATR3, MGME1, MICU1, MICU1, MSTO1, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYOT, MYPN, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFBB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NUBPL, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHOX2A, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SDHA, SDHAF1, SDHB, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SLC16A1, SLC22A5, SLC25A32, SMCHD1, SPEG, STAC3, STIM1, SYNE1, SYNE2, TAZ, TCAP, TIA1, TIMMDC1, TK2, TMEM126B, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, TWNK, TYMP, VMA21, YARS2, TNT1, TNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, TWNK, TYMP, VMA21, YARS2
ACTA1, ANO5, B3GALNT2, B4GAT1, BVES, CAPN3, CHKB, CNBP, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DMPK, DNAJB6, DNMT3B, DPM2, DPM3, DUX4, DYSF, EMD, FHL1, FKRP, FKTN, FRG1, GIPC1, GMPPB, HNRNPDL, HSPG2, ITGA7, KIF21A, LAMA2, LARGE1, LIMS2, LMNA, LTBP4, MYH7, MYOT, NOTCH2NLC, PABPN1, PHOX2A, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, SGCA, SGCB, SGCD, SGCG, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, VMA21
DNMT3B, DUX4, FHL1, FRG1, MYH7, SMCHD1
ANO5, BVES, CAPN3, CRPPA, DAG1, DNAJB6, DYSF, FKRP, FKTN, GMPPB, HNRNPDL, LIMS2, MYOT, PLEC, POGLUT1, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN.
EMD, FHL1, LMNA, SYNE1, SYNE2, TMEM43, TTN.
ANO5, CAV3, CRYAB, DES, DNAJB6, DYSF, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, NEB, TIA1, TCAP, TTN.
ACTA1, BIN1, CASQ1, CCDC174, CCDC78, CFL2, CNTN1, DNM2, FHL1, HACD1, ITGA7, KLHL40, KLHL41, LMOD3, MAMLD1, MAP3K20, MEFF10, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYPN, NEB, ORAI1, RYR1, SELENON, SPEG, STAC3, STIM1, TNNT1, TPM2, TPM3, TTN.
ACTA1, CFL2, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3.
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, BCS1L, C1QBP, CACNA1S, CASQ1, CAVIN1, CHCHD10, CHKB, COQ2, COQ8A, COQ9, COX10 COX15, COX6A2, CPT2, DGUOK, DNA2, EARS2, EARS2, ECHS1, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FLAD1, FOXRED1, GAA, GBE1, GFER, GYG1, GYS1, HADHA, HADHB, ISCU, LAMP2, LDHA, LIG3, LPIN1, MGME1, MICU1, MSTO1, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PNPLA2, PNPLA8, POLG, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, SDHA, SDHAF1, SDHB, SDHD, SLC16A1, SLC22A5, SLC25A32, TAZ, TIMMDC1, TK2, TMEM126B, TWNK, TYMP, YARS2.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Leukodystrophies represent a heterogeneous group of hereditary degenerative myelin diseases of the brain that result in extensive white matter involvement. The clinical there is a wide-range of different clinical manifestations which makes diagnosis difficult. This study involves the analysis of 72 genes related to different types of leukodystrophy.

AARS2, ABCD1, ACER3, ACOX1, ADAR, AIFM1, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, CLCN2, COA8, CSF1R, CYP27A1, DARS1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, FUCA1, GALC, GBE1, GFAP, GJA1, GJC2, HEPACAM, HIKESHI, HSD17B4, HSPD1, IFIH1, ISCA2, LMNB1, MLC1, MTHFS, NADK2, NDUFA2, NKX6-2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR1C, POLR3A, POLR3B, PSAP, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, SAMHD1, SCP2, SLC17A5, SOX10, SUMF1, TREM2, TREX1, TUBB4A, TYROBP, UFM1, VPS11

CHARACTERISTICS

DESCRIPTION

Hereditary spastic paraparesis (HSP) comprises a genetically and clinically heterogeneous group of neurodegenerative disorders whose predominant signs and symptoms are weakness and spasticity of the lower limbs. We offer different approaches for the study of various types of spastic paraparesis as well as a general panel that includes 82 genes associated with the pathology.

ADAR, ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2A4, B4GALNT1, BICD2, BSCL2, C19orf12, CAPN1, CCT5, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, AGO1, HSPD1, IBA57, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, MAG, MARS1, MTRFR, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RTN2, SELENOI, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG24, SPG7, TECPR2, TFG, TUBB4A, UBAP1, USP8, VCP, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27
ALDH18A1,ATAD3A, BICD2, BSCL2, DNM2, FAR1,KIF5A, KIDINS220, SPG7, TUBB4A, VCP.
ATL1, ATP2B4, CPT1C, KIF1A, ERLIN2,HSPD1, NIPA1, REEP1, REEP2, RTN2, SLC33A1, SPAST, SPG7, UBAP1, WASHC5, ZFYVE27.
ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ARSI, ATP13A2, B4GALNT1, C19orf12, CAPN1, CCT5, DDHD2, DSTYK, ENTPD1, ERLIN2, FA2H, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, IBA57, KIF1A, KIF1C, KLC2,KLC4, KY, MAG, MARS1, MTRFR, NT5C2, PGAP1, PNPLA6, RAB3GAP2, SELENOI, SPART, SPG21, TECPR2, TFG, USP8, VPS37A, WDR48, ZFYVE26.
CYP7B1, DDHD1, ERLIN1, REEP2, SPG7, SPG11, SPG24, ZFR.

CHARACTERISTICS

DESCRIPTION

Epilepsy is a disorder of the central nervous system in which normal brain activity is disturbed, causing seizures or periods of unusual behaviour and sensations, and even loss of consciousness. The underlying causes are multiple and heterogeneous. Through different studies we analyse various epilepsy phenotypes. We also include a specific panel for the study of epileptic syndromes of neonatal and infantile onset, as well as a general panel for more complex cases.

AARS1, ABAT, ACOX1, ACTL6B, ADAR, ADGRV1, ADRA2B, AFG3L2, AKT1, AKT3, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARV1, ARFGEF2, ARHGEF9, ARX, ASAH1, ATP1A2, ATP1A3, ATP13A2, ATP6V1A, ATXN1, BRAT1, BRD7, BTD, C3ORF33, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CCM2, CDKL5, CDK19, CELF2, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6 , CLN8, CLCN2, CLTC, CNPY3, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CPLX1, CSTB, CTNND2, CTSD, CYFIP2, DALRD3, DCX, DEPDC5, DHDDS, DMXL2, DNAJC5, DNM1, EFHC1, EEF1A2, EPM2A, FANCL, FGF12, FGF13, FKRP, FKTN, FLNA, FMR1, FOLR1, FOXG1, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAL, GBA, GJA3, GLI3, GNAQ, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HCN1, ICK, HEATR3, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNC1, KCNN2, KCNQ2, KCNQ3, KCNT1, LARGE1, LGI1, LMNB2, MAPK10, MECP2, MFSD8, NECAP1, NUS1, NEUROD2, NHLRC1, NPRL2, NPRL3, NTRK2, PAFAH1B1, PARS2, PCDH19, PCDH7, PDCDH10, PHACTR1, PIK3CA, PIK3R2, PIGA, PIGP, PIGQ , PLCB1, PNKP, PNPO, POMT1, POMT2, POLG, PPT1, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RELN, RNASEH2A, RNASEH2B, RNASEH2C,SAMD12, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SIK1, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22, SLC33A1, SLC6A1, SNX27, SPTAN1, STXBP1, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPK1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TUBA1A, WDR45,WDR62, UBA5, YEATS2, WWOX, YWHAG, ZEB2.
AARS1, ACTL6B, ADAR, ADGRV1, AP3B2, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CDKL5, CDK19, CELF2, CHD2, CILK1, CLCN2, CLTC, CNPY3, CNKSR2, CPLX1, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EFHC1, EEF1A2, FGF12, FGF13, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GLI3, GNAQ, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNQ2, KCNQ3, KCNT1, MAPK10, NECAP1, NUS1, NEUROD2, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, PPP3CA, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SCN1A, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SPTAN1, ST3GAL3, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22,SPTAN1, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, WDR45, UBA5, WWOX, YWHAG.
AARS1, ACTL6B, ADAR, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CASK, CDK19, CDKL5, CELF2, CHD2, CLTC, CNKSR2, CNPY3, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EEF1A2, FGF12, FGF13, GABRA1, GABRG2, GABRA2, GABRA5, GABRB2, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1 , IQSEC2, KCNA1,KCNB1, KCNQ2, KCNT1, MAPK10, NECAP1, NEUROD2,NTRK2, NUS1, PARS2, PDCH19, PHACTR1, PIGA PIGP, PIGQ,PLCB1, PNKP, PPP3CA, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A,SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A22,SPATAN, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, UBA5, WWOX, WDR45.
ADGRV1, GABRD, GABRG2, HCN1, KCNMA1, SCN1A, SCN2A, SCN9A, SCN1B, STX1B.
ADGRV1, GABRD, GABRG2, HCN1, SCN1A, SCN1B, SCN2A, SCN9A, STX1B.
AKT3, CCM2, CHRNA2, CHRNA4, CHRNB2, CNTNAP2, COL4A1, COL4A2, CPA6, DEPC5, GAL, GNAQ, GRIN1, GRIN2A, GRIN2B, KCNT1, KCNQ2, NPRL2, NPRL3, PDCD10, PIK3CA, PIGA, PLCB1, RELN, SCN3A, SCN1A, SCN2A, SLC12A5, SLC25A22, TBC1D24.
ADRA2B, AFG3L2, AP2M1, ASAH1, ATP13A2, CACNB4, CERS1, CHD2, CILK1, CLCN2, CLN3, CLN5, CLN6 , CLN8,CNTN2, CTNND2, CPLX1, CSTB, CTSD, CTSF, DNAJC5, EFHC1, EPM2A, FOLR1, GABRA1, GABRD, GBA, GOSR2, GRN, ICK, JRK, KCNC1, KCTD7, KCNQ3, LMNB2, MFSD8, NHLRC1, PINI1, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, SAMD12, SCARB2, SERPINI1, SLC2A1, SLC6A1, SNX27, SURF1, SYNGAP1, TBC1D24, TPK1, TPP1.
CPLX1, TBC1D24, CACNB4, CLCN2, CILK1, EFHC1, GABRA1, GABRD, JRK, KCNQ3.

CHARACTERISTICS

DESCRIPTION

Autism Spectrum Disorders (ASD) are defined as a chronic neurological dysfunction that can manifest through a series of symptoms related to social interaction, communication and lack of flexibility in reasoning and behaviour. The complexity of the clinical manifestations suggests a multi-causal aetiology with genetic alterations being the main cause. Using a targeted exome, we analyse more than 420 genes with a proven association with ASD.

ADNP, ACHE, ACTB, ADA, ADCY3, ADSL, AFF2, AGAP2, AHDC1, AHNAK, AKAP9, ALDH5A1, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANXA1, AP2S1, APBB1, APH1A, ARHGEF9, ARID1B, ARX, ASAP2, ASH1L, ASPM, ASTN2, ASXL3, ATP10A, ATP2B2, ATRX, AUTS2, AVPR1A, BAZ2B, BCKDK, BCL11A, BICRA, BRAF, BRSK2, BTAF1, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1H, CACNA2D3, CACNB2, CAPRIN1, CASK, CASZ1, CC2D1A, CCNG1, CCT4, CDC42BPB, CDH13, CDKL5, CELF4, CEP135, CEP41, CGNL1, CHAMP1, CHD2, CHD3, CHD7, CHD8, CHMP1A, CHRNA7, CIB2, CIC, CLASP1, CNKSR2, CNOT1, CNOT3, CNR1, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CORO1A, CPEB4, CREBBP, CSDE1, CTCF, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL7, CUX1, CYFIP1, DAPP1, DCC, DDHD2, DDX3X, DEAF1, DENR, DHCR7, DIP2A, DIP2C, DISC1, DLG2, DLG4, DLGAP1, DLX3, DMPK, DNMT3A, DOCK8, DPP10, DPYSL2, DSCAM, DYNC1H1, DYRK1A, EBF3, EFR3A, EHMT1, EIF3G, ELAVL3, ELP2, ELP4, EMSY, EP300, EP400, ERBIN, ETFB, FBN1, FGFR1, FMR1, FOXG1, FOXP1, FOXP2, FRG1, GABRB2, GABRB3, GABRG3, GALNT10, GALNT8, GFAP, GGNBP2, GIGYF1, GIGYF2, GNAI1, GPC4, GPHN, GRIA1, GRIA2, GRID1, GRIK2, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, HDLBP, HECTD4, HECW2, HIVEP2, HIVEP3, HMGN1, HNRNPD, HNRNPF, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HRAS, ICA1, ILF2, INTS6, IQSEC2, IRF2BPL, ITGB3, JARID2, KANSL1, KAT2B, KAT6A, KATNAL2, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNS3, KDM3B, KDM4C, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0232, KIAA1586, KIF14, KIF1A, KIRREL3, KMT2A, KMT2C, KMT2E, KMT5B, LAMB1, LDB1, LEO1, LMX1B, LRP1, LRRC4C, LZTR1, MACROD2, MAGEL2, MAP1A, MAPT-AS1, MBD5, MBOAT7, MECP2, MED13, MED13L, MEF2C, MEIS2, MET, MFRP, MIR137, MKX, MSL3, MSNP1, MTOR, MYH10, MYH9, MYO5A, MYO9B, MYT1L, NAA15, NACC1, NAV2, NBEA, NCKAP1, NCOA1, NCOR1, NEXMIF, NF1, NFE2L3, NINL, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NR3C2, NR4A2, NRXN1, NRXN2, NRXN3, NRXN1, NRXN3, NSD1, NSD2, NUAK1, NUDCD2, NUP155, OPHN1, OR52M1, OTUD7A, OXTR, P2RX5, P4HA2, PACS1, PAH, PAK2, PARD3B, PAX5, PCCB, PCDH19, PER2, PHB, PHF12, PHF2, PHF21A, PHF3, PHF7, PHIP, PHRF1, PLCB1, PLXNA4, PLXNB1, POGZ, POMGNT1, PON1, PPP1R9B, PPP2R5D, PPP5C, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKD2, PRKN, PRODH, PRR12, PSMD12, PTCHD1, PTCHD1-AS, PTEN, PTK7, PTPN11, PYHIN1, QRICH1, RAB2A, RAB43, RAI1, RALGAPB, RANBP17, RBFOX1, RBM27, RELN, RERE, RFX3, RIMS1, ROBO2, RORB, SAE1, SATB1, SBF1, SCAF4, SCN1A, SCN2A, SCN8A, SCN9A, SEMA5A, SET, SETBP1, SETD2, SETD5, SHANK1, SHANK2, SHANK3, SHOX, SIN3A, SIN3B, SKI, SLC12A5, SLC35B1, SLC38A10, SLC6A1, SLC6A3, SLC7A3, SLC7A5, SLC9A6, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCC2, SNX5, SON, SORCS3, SOX5, SPARCL1, SPAST, SPEN, SPTBN1, SRCAP, SRPRA, SRSF11, ST8SIA2, STXBP1, STXBP5, SUPT16H, SYN1, SYNGAP1, TAF6, TANC2, TAOK1, TAOK2, TBC1D31, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TEK, TERF2, TET2, TLK2, TM9SF4, TMLHE, TNRC6B, TRAF7, TRAPPC9, TRIM23, TRIO, TRIP12, TRPC6, TRPM1, TSC1, TSC2, TSHZ3, UBE3A, UBE3C, UBN2, UBR1, UBR5, UNC79, UPF3B, USP15, USP45, USP7, USP9X, VEZF1, VIL1, VPS13B, WAC, WDFY3, WDFY4, WWOX, ZBTB20, ZC3H4, ZMIZ1, ZMYM2, ZMYND11, ZMYND8, ZNF292, ZNF462, ZNF804A.

CHARACTERISTICS

DESCRIPTION

Intellectual disability refers to a group of cognitive disorders of heterogeneous and complex cause with a genetic component in most cases. Advances in genetics have increased the diagnostic rate of current studies by up to 30-40% of patients. Our targeted exome analyses more than 580 genes associated with intellectual disability.

AAAS, AASS, ABAT, ABCB11, ABCD1, ABHD5, ACADS, ACSL4, ADAT3, ADGRG1, ADSL, AGA, AGTR2, AHI1, AIMP1, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, AMT, AP1G1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARSA ARX, ASH1L, ASPA, ASPM, ASXL1, ASXL3, ATP6AP2, ATP7A, ATP8A2, ATRX, AUH, B3GALNT2, B3GLCT, B3GNT2, B4GALT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BRAF, BRCA2, BRIP1, BRSK2, BRWD3, BSCL2, BTD, C5ORF42, C12ORF4, CA2, CA8, CACNA1C, CACNG2, CAMK2A, CAMK2B, CANT1, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CD96, CDH15, CDK5RAP2, CDKL5, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CHD7, CHKB, CHMP1A, CIC, CLIC2, CLIP1, CLN3, CLCN4, CLN5, CLN6, CLN8, CLTC, CNKSR2, COG1, COG4, COG5, COG6, COG7, COG8, COL2A1, COL4A1, COMP, COQ2, COQ4, COQ6, COQ8A, COQ9, CPS1, CRADD, CRBN, CRPPA, CSNK2B, CSNK2B, CSPP1, CTCF, CTNNB1, CTSA, CTSD, CUL4B, CUX1, CYB5R3, CYP27A1, DARS2, DCPS, DCX, DDC, DDOST, DDX59, DHCR7, DKC1, DLG3, DLL1, DNAJC19, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPF2, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EDC3, EEF1A2, EIF2S3, EPB41L1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZR, FAM126A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FMN2, FOXG1, FOXL2, FRMPD4, FRRS1L, FTCD, FTSJ1, FUCA1, GABRG2, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDI1, GFAP, GJB1, GJB6, GJC2, GK, GLB1, GLDC, GLI3, GLYCTK, GM2A, GMPPB, GNAS, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GPI, GRIA3, GRIK2, GRIN1, GRIN2B, GRM7,GSS, GUSB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HGSNAT, HIVEP2, HNMT, HPRT1, HRAS, HSD17B10, HSPD1, HSPG2, HUWE1, HYAL1, HYLS1, IDS, IDUA, IGBP1, IL1RAPL1, INPP5E, INSR, IQSEC2, ITPR1, JAG1, KATNIP, KCNC3, KCNJ10, KCNQ5, KDM5B, KDM5C, KDM6A, KIAA0586, KIF1A, KIF7, KIRREL3, KMT2D, KNL1, KRAS, L1CAM, L2HGDH, LAMA2, LAMP2, LARGE1, LINS1, LMAN2L, LRP5, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MBD5, MBOAT7, MCOLN1, MCPH1, MECP2, MED12, MED23, MED25, METTL23, MFSD8, MGAT2, MID1, MID2, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MVK, MYCN, MYO5A, MYT1L, NAA10, NAGLU, NBN, NBEA, NCDN, NDE1, NDP, NDST1, NECTIN1, NEMF, NEXHIF, NFIX, NGLY1, NHS, NIPBL, NLGN4X, NLRP3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NSD1, NSDHL, NSUN2, NTRK1, OCRL, OFD1, OPA3, OPHN1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PAX3, PAX6, PCBD1, PCCA, PCDH19, PDHA1, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHC1, PHF6, PHF8, PIBF1, PIGL, PLA2G6, PLP1, PMM2, PNKP, PNP, PNPO, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PPT1, PPP3CA, PQBP1, PRKAR1A, PRICKLE2, PRPS1, PRSS12, PSAP, PTCH1, PTCHD1, PTEN, PTPN11, PTS, QDPR, RAB11A, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD51C, RAF1, RARS2, RBM10, RECQL4, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RPS6KA3, RSRC1, RXYLT1, SACS, SAMHD1, SAR1B, SARS1, SBDS, SC5D, SCN1A, SCN2A, SCN9A, SEMA3E, SEPSECS, SET, SETBP1, SETD1B, SGSH, SH3PXD2B, SHROOM4, SIL1, SLC12A2, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC25A15, SLC25A22, SLC2A1, SLC45A1, SLC9A7, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A19, SLC6A8, SLC7A7, SLC9A6, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SOS1, SOX11, SOX3, SOX4, SPAST, SPG11, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STEEP1, STIL, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TAT, TAOK1, TBCE, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TECR, TGFBR1, TGFBR2, TIMM8A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TNIK, TPI1, TPP1, TRAPPC9, TREM2, TREX1, TRIM32, TRPM3, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTC5, TTC8, TUBA1A, TUBB4A, TUSC3, TWIST1, TYROBP, UBE2A, UBE3A, UBE4A, UBR1, UFSP2, UMPS, UPF3B, UROC1, USP27X, USP9X, VLDLR, VPS13B, VRK1, WASHC4, WDPCP, WDR62, ZC3H14, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZMYND11, ZNF335, ZNF423, ZNF711, ZNF81.
ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ALG13, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GABRE, GDI1, GK, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, STEEP1, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81.

CHARACTERISTICS

DESCRIPTION

Ataxia is a motor disorder characterized by a decreased ability to coordinate movements, manifesting as tremor of body parts during voluntary movements, difficulty in making precise movements or difficulty in maintaining balance.

AAAS, ABCB7, ABHD12, ADCK3, ADGRG1, AFG3L2, AHI1, ALDH5A1,ANO10, APTX, ARL13B,ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8,BEAN1, CA8, CACNA1A, CACNB4, CAMTA1, CC2D2A, CCDC88C, CEP290, CHMP1A, CHP1, CLCN2, CLN5, COA7, COQ2, COQ5, COQ8A, COQ9, COX20, CP, CRPPA, CSTB,CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5,EXOSC3, FAT2, FGF14, FLVCR1, FMR1, FXN, GALC, GBA2, GPR56, GRID2, GRM1, GSS, TPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226, KIF1C, L2HGDH, LARGE1, KIF1C,, MARS2, MECP2, MRE11, MTPAP, MTTP, NEU1, NHLRC1, NKX6-2, NPC1, NPC2, NOP56, OPA1, OPA3, OPHN1, PAX6, PCNA, PDYN, PHYH, PIK3R5, PLA2G6, PLEKHG4, PNKP, PNPLA6, POLG, POLH, POMGNT2, PPP2R2B, PRICKLE1, PRKCG RARS2, RFC1, RNF170,RPGRIP1L, RUBCN, SACS, SAR1B, SEPSECS, SETX, SCN2A, SCN8A, SETX, SIL1, SLC17A5, SLC1A3, SLC2A1, SLC52A2, SLC9A6, SMPD1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TMEM67, TSEN2, TSEN54, TTBK2, TTPA, TPP1, TTBK2, TTPA, TUBB4A, TWNK, VAMP1, VLDLR, VLDLR, VPS13A, VWA3B, WDR81, WFS1, WWOX, ZNF592
AFG3L2, ATN1, ATP1A3, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN, C9orf72, CACNA1A, DNMT1, EEF2, FGF12, FGF14, GRID2, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, TBP, TGM6, TMEM240, TTBK2, TUBB4A
ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A, PPP2R2B, TBP
AFG3L2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8, BEAN, CACNA1A, EEF2, ELOVL5, FAT2, FGF14, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, STUB1, TBP, TGM6, TMEM240, TTBK2
ADCK3, COQ5, SMPD1, SYNE1, NPC1, NPC2
ATP1A3, CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3
AFG3L2, CHP1, KIF1C, MARS2*, MTPAP, NKX6-2, SACS, SPG7, VAMP1
ANO10, APTX, ATM, CYP27A1, CWF19L1, FXN*, GRM1, PEX7, PHYH, PNPLA6, RFC1, RUBCN, SACS, SETX, SIL1, SLC52A2, SNX14, STUB1, SYNE1, TPP1, TTPA, TWNK, VWA3B, WFS1
FXN* FXN* FXN* FXN* FXN* FXN* FXN* FXN* FXN
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP
ABCB7, CASK, FMR1*, OPHN1, SLC9A6

CHARACTERISTICS

Other services

DESCRIPTION

We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases. 

DESCRIPTION

We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.

DESCRIPTION

We use the MLPA technique (Multiplex Ligation-dependent Probe Amplification) for the identification of deletions/duplications or methylation alterations in a methylation alterations in a specific gene or region.

Accepted samples
  • EDTA blood (1x 5 ml)
  • Saliva (specific Isohelix kit)
  • Buccal exudate (2x sterile isopes)
  • Isolated DNA (>30 ng/μl in >100 μl)

Remember to label each sample with the patient's first and last name or with the identifier used on the request form.

DESCRIPTION

The term 'movement disorders' refers to a group of nervous system conditions that cause an increase in abnormal movements, which may be voluntary or involuntary. Movement disorders can also cause slow or reduced movements. We offer the study of the main movement disorders such as dystonia and Parkinson's disease.

Parkinson's disease

ATP13A2, COQ2, DNAJC6, FBXO7, GBA, LRRK2, MAPT, PARK7 (DJ1), PINK1, PRKN, PODXL, SLC6A3, SNCA, SYNJ1, VPS13C, VPS35
GBA, LRRK2, PARK7 (DJ1), PINK1, PRKN, SNCA, VPS13C, VPS35
ATP13A2,DJ1, DNAJC6, FBXO7, GBA, PINK1, PODXL, PRKN, SLC6A3, SYNJ1, VPS13C

Parkinsonian disorders

ATP6AP2, COQ2, DCTN1, GCH1, LRRK2, LYST, MAPT, NUS1, OPA1, PLA2G6, PTRHD1, RAB39B, SPG11, TWNK, ZFYVE26, SYNJ1, VPS13C

Dystonia

ANO3, ADAR, ARSA, ATN1, ATP13A2, ATP1A3, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, ECHS1, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GNAL, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, KMT2B, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKN, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SPR, SUCLA2, TAF1, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TUBB4, VPS13A, WDR45, XK, XPR1
ANO3, GNAL, KMT2B, THAP1, TOR1A, TUBB4
ATP1A3, GCH1, SPR, TAF1, TH.
ADAR, ARSA, ATN1, ATP13A2, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GLB1, GM2A, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PARK2, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1 POLG, PPT1, PRKN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SLC19A3, SLC20A2, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SUCLA2, TIMM8A, TPP1, TREX1, VPS13A, WDR45, XK, XPR1.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Dementia is an umbrella term that describes a wide range of symptoms associated with memory impairement and other thinking skills, leading to a reduction in a person's ability to carry out daily activities. Alzheimer's disease accounts for 60-80% of cases. The study of genes associated with different types of dementia is included.

APP, APOE (e4 allele), C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP
APP, APOE (e4 allele), C9orf72, GRN, MAPT, PSEN1, PSEN2, TREM2
MAPT, PSEN1, PSEN2, TREM2
C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP

CHARACTERISTICS

DESCRIPTION

Neuromuscular diseases are a group of more than 150 progressive and chronic neurological conditions, mostly of genetic origin, which cause loss of muscle strength and associated muscle and nerve degeneration. Through the different panels we address the study of various neuromuscular diseases such as neuropathies, myopathies and muscular dystrophies, diseases with motor neuron involvement and myasthenic syndromes as well as other syndromes with hypotonia, myotonia and/or weakness.

Motor neurone disease

AGTPBP1, ALS2, ANG, ANXA11, ATXN2, AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, C9ORF72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, DES, DNAJB2, DYNC1H1, EPHA4, ERBB4, ERLIN2, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4, FUS, GARS1, GLE1, GLT8D1, HNRNPA1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, MATR3, MOBP, MYH14, NAIP, NEFH,NEK1, OPTN, PFN1, PLEKHG5, PON1, PON2, PON3, PPARGC1A, PRPH, REEP1, SCFD1, SEPSECS SETX, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBCE, TBK1, TREM2, TRIP4, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TUBA4A, UBA1, UBQLN2, UNC13A, VAPB, VCP, VRK1, VWA1.
ALS2, ANG, ANXA11, ATXN2, C9orf72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, EPHA4, ERBB4, FIG4, FUS, GLE1, GLT8D1, HNRNPA1, MATR3, MOBP, NEFH,NEK1, OPTN, PFN1, PON1, PON2, PON3, PPARGC1A, PRPH, SCFD1, SETX, SIGMAR1, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, UNC13A, VAPB, VCP.
C9ORF72, CHCHD10, FUS, SQSTM1, TARDBP, TBK1, VCP.

Neuropathies

AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1, AP1S1, APOA1, APTX, AR, ARHGEF10, ARSA, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CD59, CHCHD10, CLCF1, CNTNAP1, COA7, COX10, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, DARS2, DCTN1, DCTN2, DCAF8, DGAT2, DEGS1, DHTKD1, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, ETFDH, FAH, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FLRT1, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXB, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, IARS2, IBA57, IGHMBP2, INF2, JPH1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NDRG1, NEFH, NEFL, NGF, NOD2, NTRK1, OPA1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTRH2, RAB7A, RAI1, REEP1, RETREG1, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SORD, SOX5, SOX10, SPAST, SPTAN1, SPG11, SPG7, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TFG, TRIM2, TRIP4, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XRCC1, YARS1, ZFYVE26.
AARS1, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CNTNAP1, COA7, COX6A1, CTDP1, DCTN1, DCTN2, DCAF8, DGAT2, DHTKD1, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FBLN5, FBXO38, FGD4, FIG4, FLRT1,FXN, GAN, GARS1, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IBA57, IGHMBP2, INF2, KARS1, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, NAGLU, NDRG1, NEFH, NEFL OPA1, PDK3, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, RAI1, SBF1, SBF2, SCO2, SCYL1,SETX, SH3TC2, SIGMAR1, SGPL1, SLC12A6, , SLC25A46, SLC52A2, SLC52A3, , SORD, SOX5, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1, YARS1
AARS, AGTPBP1, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, FBXO38, GARS, GSN, HARS, HEXB, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, MFN2, MORC2, PLEKHG5, REEP1, SETX, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SPTAN1, SYT2, TFG, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS1.
ATL1, ATL3, DNMT1, DST, RETREG1, ELP1, KIF1A, NGF, NTRK1, PRDM12, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK.

Congenital Myasthenia

AGRN, AK9, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DES, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MACF1, MUSK, MYO9A, PLEC, PREPL, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1.

Myopathies

AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, ANO5, B3GALNT2, B4GAT1, BCS1L, BIN1, BVES, C1QBP, CACNA1S, CAPN3, CASQ1, CAVIN1, CCDC174, CCDC78, CFL2, CHCHD10, CHKB, CNBP, CNTN1, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, COQ9, COX10, COX15, COX6A2, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DMPK, DNA2, DNAJB6, DNM2, DNMT3B, DPM2, DPM3, DUX4, DYSF, EARS2, ECHS1, EMD, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FHL1, FKRP, FKTN, FLAD1, FLNC, FOXRED1, FRG1, GAA, GBE1, GFER, GIPC1, GMPPB, GNE, GYG1, GYS1, HACD1, HADHA, HADHB, HNRNPDL, HSPG2, ISCU, ITGA7, KIF21A, KLHL40, KLHL41, LAMA2, LARGE1, LDB3, LDHA, LIG3, LIMS2, LMNA, LMOD3, LPIN1, LTBP4, MAMLD1, MAP3K20, MATR3, MGME1, MICU1, MICU1, MSTO1, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYOT, MYPN, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFBB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NUBPL, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHOX2A, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SDHA, SDHAF1, SDHB, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SLC16A1, SLC22A5, SLC25A32, SMCHD1, SPEG, STAC3, STIM1, SYNE1, SYNE2, TAZ, TCAP, TIA1, TIMMDC1, TK2, TMEM126B, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, TWNK, TYMP, VMA21, YARS2, TNT1, TNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, TWNK, TYMP, VMA21, YARS2
ACTA1, ANO5, B3GALNT2, B4GAT1, BVES, CAPN3, CHKB, CNBP, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DMPK, DNAJB6, DNMT3B, DPM2, DPM3, DUX4, DYSF, EMD, FHL1, FKRP, FKTN, FRG1, GIPC1, GMPPB, HNRNPDL, HSPG2, ITGA7, KIF21A, LAMA2, LARGE1, LIMS2, LMNA, LTBP4, MYH7, MYOT, NOTCH2NLC, PABPN1, PHOX2A, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, SGCA, SGCB, SGCD, SGCG, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, VMA21
DNMT3B, DUX4, FHL1, FRG1, MYH7, SMCHD1
ANO5, BVES, CAPN3, CRPPA, DAG1, DNAJB6, DYSF, FKRP, FKTN, GMPPB, HNRNPDL, LIMS2, MYOT, PLEC, POGLUT1, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN.
EMD, FHL1, LMNA, SYNE1, SYNE2, TMEM43, TTN.
ANO5, CAV3, CRYAB, DES, DNAJB6, DYSF, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, NEB, TIA1, TCAP, TTN.
ACTA1, BIN1, CASQ1, CCDC174, CCDC78, CFL2, CNTN1, DNM2, FHL1, HACD1, ITGA7, KLHL40, KLHL41, LMOD3, MAMLD1, MAP3K20, MEFF10, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYPN, NEB, ORAI1, RYR1, SELENON, SPEG, STAC3, STIM1, TNNT1, TPM2, TPM3, TTN.
ACTA1, CFL2, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3.
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, BCS1L, C1QBP, CACNA1S, CASQ1, CAVIN1, CHCHD10, CHKB, COQ2, COQ8A, COQ9, COX10 COX15, COX6A2, CPT2, DGUOK, DNA2, EARS2, EARS2, ECHS1, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FLAD1, FOXRED1, GAA, GBE1, GFER, GYG1, GYS1, HADHA, HADHB, ISCU, LAMP2, LDHA, LIG3, LPIN1, MGME1, MICU1, MSTO1, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PNPLA2, PNPLA8, POLG, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, SDHA, SDHAF1, SDHB, SDHD, SLC16A1, SLC22A5, SLC25A32, TAZ, TIMMDC1, TK2, TMEM126B, TWNK, TYMP, YARS2.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Leukodystrophies represent a heterogeneous group of hereditary degenerative myelin diseases of the brain that result in extensive white matter involvement. The clinical there is a wide-range of different clinical manifestations which makes diagnosis difficult. This study involves the analysis of 72 genes related to different types of leukodystrophy.

AARS2, ABCD1, ACER3, ACOX1, ADAR, AIFM1, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, CLCN2, COA8, CSF1R, CYP27A1, DARS1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, FUCA1, GALC, GBE1, GFAP, GJA1, GJC2, HEPACAM, HIKESHI, HSD17B4, HSPD1, IFIH1, ISCA2, LMNB1, MLC1, MTHFS, NADK2, NDUFA2, NKX6-2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR1C, POLR3A, POLR3B, PSAP, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, SAMHD1, SCP2, SLC17A5, SOX10, SUMF1, TREM2, TREX1, TUBB4A, TYROBP, UFM1, VPS11

CHARACTERISTICS

DESCRIPTION

Hereditary spastic paraparesis (HSP) comprises a genetically and clinically heterogeneous group of neurodegenerative disorders whose predominant signs and symptoms are weakness and spasticity of the lower limbs. We offer different approaches for the study of various types of spastic paraparesis as well as a general panel that includes 82 genes associated with the pathology.

ADAR, ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2A4, B4GALNT1, BICD2, BSCL2, C19orf12, CAPN1, CCT5, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, AGO1, HSPD1, IBA57, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, MAG, MARS1, MTRFR, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RTN2, SELENOI, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG24, SPG7, TECPR2, TFG, TUBB4A, UBAP1, USP8, VCP, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27
ALDH18A1,ATAD3A, BICD2, BSCL2, DNM2, FAR1,KIF5A, KIDINS220, SPG7, TUBB4A, VCP.
ATL1, ATP2B4, CPT1C, KIF1A, ERLIN2,HSPD1, NIPA1, REEP1, REEP2, RTN2, SLC33A1, SPAST, SPG7, UBAP1, WASHC5, ZFYVE27.
ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ARSI, ATP13A2, B4GALNT1, C19orf12, CAPN1, CCT5, DDHD2, DSTYK, ENTPD1, ERLIN2, FA2H, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, IBA57, KIF1A, KIF1C, KLC2,KLC4, KY, MAG, MARS1, MTRFR, NT5C2, PGAP1, PNPLA6, RAB3GAP2, SELENOI, SPART, SPG21, TECPR2, TFG, USP8, VPS37A, WDR48, ZFYVE26.
CYP7B1, DDHD1, ERLIN1, REEP2, SPG7, SPG11, SPG24, ZFR.

CHARACTERISTICS

DESCRIPTION

Epilepsy is a disorder of the central nervous system in which normal brain activity is disturbed, causing seizures or periods of unusual behaviour and sensations, and even loss of consciousness. The underlying causes are multiple and heterogeneous. Through different studies we analyse various epilepsy phenotypes. We also include a specific panel for the study of epileptic syndromes of neonatal and infantile onset, as well as a general panel for more complex cases.

AARS1, ABAT, ACOX1, ACTL6B, ADAR, ADGRV1, ADRA2B, AFG3L2, AKT1, AKT3, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARV1, ARFGEF2, ARHGEF9, ARX, ASAH1, ATP1A2, ATP1A3, ATP13A2, ATP6V1A, ATXN1, BRAT1, BRD7, BTD, C3ORF33, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CCM2, CDKL5, CDK19, CELF2, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6 , CLN8, CLCN2, CLTC, CNPY3, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CPLX1, CSTB, CTNND2, CTSD, CYFIP2, DALRD3, DCX, DEPDC5, DHDDS, DMXL2, DNAJC5, DNM1, EFHC1, EEF1A2, EPM2A, FANCL, FGF12, FGF13, FKRP, FKTN, FLNA, FMR1, FOLR1, FOXG1, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAL, GBA, GJA3, GLI3, GNAQ, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HCN1, ICK, HEATR3, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNC1, KCNN2, KCNQ2, KCNQ3, KCNT1, LARGE1, LGI1, LMNB2, MAPK10, MECP2, MFSD8, NECAP1, NUS1, NEUROD2, NHLRC1, NPRL2, NPRL3, NTRK2, PAFAH1B1, PARS2, PCDH19, PCDH7, PDCDH10, PHACTR1, PIK3CA, PIK3R2, PIGA, PIGP, PIGQ , PLCB1, PNKP, PNPO, POMT1, POMT2, POLG, PPT1, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RELN, RNASEH2A, RNASEH2B, RNASEH2C,SAMD12, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SIK1, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22, SLC33A1, SLC6A1, SNX27, SPTAN1, STXBP1, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPK1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TUBA1A, WDR45,WDR62, UBA5, YEATS2, WWOX, YWHAG, ZEB2.
AARS1, ACTL6B, ADAR, ADGRV1, AP3B2, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CDKL5, CDK19, CELF2, CHD2, CILK1, CLCN2, CLTC, CNPY3, CNKSR2, CPLX1, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EFHC1, EEF1A2, FGF12, FGF13, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GLI3, GNAQ, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNQ2, KCNQ3, KCNT1, MAPK10, NECAP1, NUS1, NEUROD2, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, PPP3CA, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SCN1A, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SPTAN1, ST3GAL3, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22,SPTAN1, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, WDR45, UBA5, WWOX, YWHAG.
AARS1, ACTL6B, ADAR, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CASK, CDK19, CDKL5, CELF2, CHD2, CLTC, CNKSR2, CNPY3, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EEF1A2, FGF12, FGF13, GABRA1, GABRG2, GABRA2, GABRA5, GABRB2, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1 , IQSEC2, KCNA1,KCNB1, KCNQ2, KCNT1, MAPK10, NECAP1, NEUROD2,NTRK2, NUS1, PARS2, PDCH19, PHACTR1, PIGA PIGP, PIGQ,PLCB1, PNKP, PPP3CA, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A,SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A22,SPATAN, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, UBA5, WWOX, WDR45.
ADGRV1, GABRD, GABRG2, HCN1, KCNMA1, SCN1A, SCN2A, SCN9A, SCN1B, STX1B.
ADGRV1, GABRD, GABRG2, HCN1, SCN1A, SCN1B, SCN2A, SCN9A, STX1B.
AKT3, CCM2, CHRNA2, CHRNA4, CHRNB2, CNTNAP2, COL4A1, COL4A2, CPA6, DEPC5, GAL, GNAQ, GRIN1, GRIN2A, GRIN2B, KCNT1, KCNQ2, NPRL2, NPRL3, PDCD10, PIK3CA, PIGA, PLCB1, RELN, SCN3A, SCN1A, SCN2A, SLC12A5, SLC25A22, TBC1D24.
ADRA2B, AFG3L2, AP2M1, ASAH1, ATP13A2, CACNB4, CERS1, CHD2, CILK1, CLCN2, CLN3, CLN5, CLN6 , CLN8,CNTN2, CTNND2, CPLX1, CSTB, CTSD, CTSF, DNAJC5, EFHC1, EPM2A, FOLR1, GABRA1, GABRD, GBA, GOSR2, GRN, ICK, JRK, KCNC1, KCTD7, KCNQ3, LMNB2, MFSD8, NHLRC1, PINI1, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, SAMD12, SCARB2, SERPINI1, SLC2A1, SLC6A1, SNX27, SURF1, SYNGAP1, TBC1D24, TPK1, TPP1.
CPLX1, TBC1D24, CACNB4, CLCN2, CILK1, EFHC1, GABRA1, GABRD, JRK, KCNQ3.

CHARACTERISTICS

DESCRIPTION

Autism Spectrum Disorders (ASD) are defined as a chronic neurological dysfunction that can manifest through a series of symptoms related to social interaction, communication and lack of flexibility in reasoning and behaviour. The complexity of the clinical manifestations suggests a multi-causal aetiology with genetic alterations being the main cause. Using a targeted exome, we analyse more than 420 genes with a proven association with ASD.

ADNP, ACHE, ACTB, ADA, ADCY3, ADSL, AFF2, AGAP2, AHDC1, AHNAK, AKAP9, ALDH5A1, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANXA1, AP2S1, APBB1, APH1A, ARHGEF9, ARID1B, ARX, ASAP2, ASH1L, ASPM, ASTN2, ASXL3, ATP10A, ATP2B2, ATRX, AUTS2, AVPR1A, BAZ2B, BCKDK, BCL11A, BICRA, BRAF, BRSK2, BTAF1, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1H, CACNA2D3, CACNB2, CAPRIN1, CASK, CASZ1, CC2D1A, CCNG1, CCT4, CDC42BPB, CDH13, CDKL5, CELF4, CEP135, CEP41, CGNL1, CHAMP1, CHD2, CHD3, CHD7, CHD8, CHMP1A, CHRNA7, CIB2, CIC, CLASP1, CNKSR2, CNOT1, CNOT3, CNR1, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CORO1A, CPEB4, CREBBP, CSDE1, CTCF, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL7, CUX1, CYFIP1, DAPP1, DCC, DDHD2, DDX3X, DEAF1, DENR, DHCR7, DIP2A, DIP2C, DISC1, DLG2, DLG4, DLGAP1, DLX3, DMPK, DNMT3A, DOCK8, DPP10, DPYSL2, DSCAM, DYNC1H1, DYRK1A, EBF3, EFR3A, EHMT1, EIF3G, ELAVL3, ELP2, ELP4, EMSY, EP300, EP400, ERBIN, ETFB, FBN1, FGFR1, FMR1, FOXG1, FOXP1, FOXP2, FRG1, GABRB2, GABRB3, GABRG3, GALNT10, GALNT8, GFAP, GGNBP2, GIGYF1, GIGYF2, GNAI1, GPC4, GPHN, GRIA1, GRIA2, GRID1, GRIK2, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, HDLBP, HECTD4, HECW2, HIVEP2, HIVEP3, HMGN1, HNRNPD, HNRNPF, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HRAS, ICA1, ILF2, INTS6, IQSEC2, IRF2BPL, ITGB3, JARID2, KANSL1, KAT2B, KAT6A, KATNAL2, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNS3, KDM3B, KDM4C, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0232, KIAA1586, KIF14, KIF1A, KIRREL3, KMT2A, KMT2C, KMT2E, KMT5B, LAMB1, LDB1, LEO1, LMX1B, LRP1, LRRC4C, LZTR1, MACROD2, MAGEL2, MAP1A, MAPT-AS1, MBD5, MBOAT7, MECP2, MED13, MED13L, MEF2C, MEIS2, MET, MFRP, MIR137, MKX, MSL3, MSNP1, MTOR, MYH10, MYH9, MYO5A, MYO9B, MYT1L, NAA15, NACC1, NAV2, NBEA, NCKAP1, NCOA1, NCOR1, NEXMIF, NF1, NFE2L3, NINL, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NR3C2, NR4A2, NRXN1, NRXN2, NRXN3, NRXN1, NRXN3, NSD1, NSD2, NUAK1, NUDCD2, NUP155, OPHN1, OR52M1, OTUD7A, OXTR, P2RX5, P4HA2, PACS1, PAH, PAK2, PARD3B, PAX5, PCCB, PCDH19, PER2, PHB, PHF12, PHF2, PHF21A, PHF3, PHF7, PHIP, PHRF1, PLCB1, PLXNA4, PLXNB1, POGZ, POMGNT1, PON1, PPP1R9B, PPP2R5D, PPP5C, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKD2, PRKN, PRODH, PRR12, PSMD12, PTCHD1, PTCHD1-AS, PTEN, PTK7, PTPN11, PYHIN1, QRICH1, RAB2A, RAB43, RAI1, RALGAPB, RANBP17, RBFOX1, RBM27, RELN, RERE, RFX3, RIMS1, ROBO2, RORB, SAE1, SATB1, SBF1, SCAF4, SCN1A, SCN2A, SCN8A, SCN9A, SEMA5A, SET, SETBP1, SETD2, SETD5, SHANK1, SHANK2, SHANK3, SHOX, SIN3A, SIN3B, SKI, SLC12A5, SLC35B1, SLC38A10, SLC6A1, SLC6A3, SLC7A3, SLC7A5, SLC9A6, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCC2, SNX5, SON, SORCS3, SOX5, SPARCL1, SPAST, SPEN, SPTBN1, SRCAP, SRPRA, SRSF11, ST8SIA2, STXBP1, STXBP5, SUPT16H, SYN1, SYNGAP1, TAF6, TANC2, TAOK1, TAOK2, TBC1D31, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TEK, TERF2, TET2, TLK2, TM9SF4, TMLHE, TNRC6B, TRAF7, TRAPPC9, TRIM23, TRIO, TRIP12, TRPC6, TRPM1, TSC1, TSC2, TSHZ3, UBE3A, UBE3C, UBN2, UBR1, UBR5, UNC79, UPF3B, USP15, USP45, USP7, USP9X, VEZF1, VIL1, VPS13B, WAC, WDFY3, WDFY4, WWOX, ZBTB20, ZC3H4, ZMIZ1, ZMYM2, ZMYND11, ZMYND8, ZNF292, ZNF462, ZNF804A.

CHARACTERISTICS

DESCRIPTION

Intellectual disability refers to a group of cognitive disorders of heterogeneous and complex cause with a genetic component in most cases. Advances in genetics have increased the diagnostic rate of current studies by up to 30-40% of patients. Our targeted exome analyses more than 580 genes associated with intellectual disability.

AAAS, AASS, ABAT, ABCB11, ABCD1, ABHD5, ACADS, ACSL4, ADAT3, ADGRG1, ADSL, AGA, AGTR2, AHI1, AIMP1, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, AMT, AP1G1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARSA ARX, ASH1L, ASPA, ASPM, ASXL1, ASXL3, ATP6AP2, ATP7A, ATP8A2, ATRX, AUH, B3GALNT2, B3GLCT, B3GNT2, B4GALT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BRAF, BRCA2, BRIP1, BRSK2, BRWD3, BSCL2, BTD, C5ORF42, C12ORF4, CA2, CA8, CACNA1C, CACNG2, CAMK2A, CAMK2B, CANT1, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CD96, CDH15, CDK5RAP2, CDKL5, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CHD7, CHKB, CHMP1A, CIC, CLIC2, CLIP1, CLN3, CLCN4, CLN5, CLN6, CLN8, CLTC, CNKSR2, COG1, COG4, COG5, COG6, COG7, COG8, COL2A1, COL4A1, COMP, COQ2, COQ4, COQ6, COQ8A, COQ9, CPS1, CRADD, CRBN, CRPPA, CSNK2B, CSNK2B, CSPP1, CTCF, CTNNB1, CTSA, CTSD, CUL4B, CUX1, CYB5R3, CYP27A1, DARS2, DCPS, DCX, DDC, DDOST, DDX59, DHCR7, DKC1, DLG3, DLL1, DNAJC19, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPF2, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EDC3, EEF1A2, EIF2S3, EPB41L1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZR, FAM126A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FMN2, FOXG1, FOXL2, FRMPD4, FRRS1L, FTCD, FTSJ1, FUCA1, GABRG2, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDI1, GFAP, GJB1, GJB6, GJC2, GK, GLB1, GLDC, GLI3, GLYCTK, GM2A, GMPPB, GNAS, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GPI, GRIA3, GRIK2, GRIN1, GRIN2B, GRM7,GSS, GUSB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HGSNAT, HIVEP2, HNMT, HPRT1, HRAS, HSD17B10, HSPD1, HSPG2, HUWE1, HYAL1, HYLS1, IDS, IDUA, IGBP1, IL1RAPL1, INPP5E, INSR, IQSEC2, ITPR1, JAG1, KATNIP, KCNC3, KCNJ10, KCNQ5, KDM5B, KDM5C, KDM6A, KIAA0586, KIF1A, KIF7, KIRREL3, KMT2D, KNL1, KRAS, L1CAM, L2HGDH, LAMA2, LAMP2, LARGE1, LINS1, LMAN2L, LRP5, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MBD5, MBOAT7, MCOLN1, MCPH1, MECP2, MED12, MED23, MED25, METTL23, MFSD8, MGAT2, MID1, MID2, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MVK, MYCN, MYO5A, MYT1L, NAA10, NAGLU, NBN, NBEA, NCDN, NDE1, NDP, NDST1, NECTIN1, NEMF, NEXHIF, NFIX, NGLY1, NHS, NIPBL, NLGN4X, NLRP3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NSD1, NSDHL, NSUN2, NTRK1, OCRL, OFD1, OPA3, OPHN1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PAX3, PAX6, PCBD1, PCCA, PCDH19, PDHA1, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHC1, PHF6, PHF8, PIBF1, PIGL, PLA2G6, PLP1, PMM2, PNKP, PNP, PNPO, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PPT1, PPP3CA, PQBP1, PRKAR1A, PRICKLE2, PRPS1, PRSS12, PSAP, PTCH1, PTCHD1, PTEN, PTPN11, PTS, QDPR, RAB11A, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD51C, RAF1, RARS2, RBM10, RECQL4, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RPS6KA3, RSRC1, RXYLT1, SACS, SAMHD1, SAR1B, SARS1, SBDS, SC5D, SCN1A, SCN2A, SCN9A, SEMA3E, SEPSECS, SET, SETBP1, SETD1B, SGSH, SH3PXD2B, SHROOM4, SIL1, SLC12A2, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC25A15, SLC25A22, SLC2A1, SLC45A1, SLC9A7, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A19, SLC6A8, SLC7A7, SLC9A6, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SOS1, SOX11, SOX3, SOX4, SPAST, SPG11, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STEEP1, STIL, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TAT, TAOK1, TBCE, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TECR, TGFBR1, TGFBR2, TIMM8A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TNIK, TPI1, TPP1, TRAPPC9, TREM2, TREX1, TRIM32, TRPM3, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTC5, TTC8, TUBA1A, TUBB4A, TUSC3, TWIST1, TYROBP, UBE2A, UBE3A, UBE4A, UBR1, UFSP2, UMPS, UPF3B, UROC1, USP27X, USP9X, VLDLR, VPS13B, VRK1, WASHC4, WDPCP, WDR62, ZC3H14, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZMYND11, ZNF335, ZNF423, ZNF711, ZNF81.
ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ALG13, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GABRE, GDI1, GK, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, STEEP1, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81.

CHARACTERISTICS

DESCRIPTION

Ataxia is a motor disorder characterized by a decreased ability to coordinate movements, manifesting as tremor of body parts during voluntary movements, difficulty in making precise movements or difficulty in maintaining balance.

AAAS, ABCB7, ABHD12, ADCK3, ADGRG1, AFG3L2, AHI1, ALDH5A1,ANO10, APTX, ARL13B,ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8,BEAN1, CA8, CACNA1A, CACNB4, CAMTA1, CC2D2A, CCDC88C, CEP290, CHMP1A, CHP1, CLCN2, CLN5, COA7, COQ2, COQ5, COQ8A, COQ9, COX20, CP, CRPPA, CSTB,CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5,EXOSC3, FAT2, FGF14, FLVCR1, FMR1, FXN, GALC, GBA2, GPR56, GRID2, GRM1, GSS, TPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226, KIF1C, L2HGDH, LARGE1, KIF1C,, MARS2, MECP2, MRE11, MTPAP, MTTP, NEU1, NHLRC1, NKX6-2, NPC1, NPC2, NOP56, OPA1, OPA3, OPHN1, PAX6, PCNA, PDYN, PHYH, PIK3R5, PLA2G6, PLEKHG4, PNKP, PNPLA6, POLG, POLH, POMGNT2, PPP2R2B, PRICKLE1, PRKCG RARS2, RFC1, RNF170,RPGRIP1L, RUBCN, SACS, SAR1B, SEPSECS, SETX, SCN2A, SCN8A, SETX, SIL1, SLC17A5, SLC1A3, SLC2A1, SLC52A2, SLC9A6, SMPD1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TMEM67, TSEN2, TSEN54, TTBK2, TTPA, TPP1, TTBK2, TTPA, TUBB4A, TWNK, VAMP1, VLDLR, VLDLR, VPS13A, VWA3B, WDR81, WFS1, WWOX, ZNF592
AFG3L2, ATN1, ATP1A3, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN, C9orf72, CACNA1A, DNMT1, EEF2, FGF12, FGF14, GRID2, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, TBP, TGM6, TMEM240, TTBK2, TUBB4A
ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A, PPP2R2B, TBP
AFG3L2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8, BEAN, CACNA1A, EEF2, ELOVL5, FAT2, FGF14, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, STUB1, TBP, TGM6, TMEM240, TTBK2
ADCK3, COQ5, SMPD1, SYNE1, NPC1, NPC2
ATP1A3, CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3
AFG3L2, CHP1, KIF1C, MARS2*, MTPAP, NKX6-2, SACS, SPG7, VAMP1
ANO10, APTX, ATM, CYP27A1, CWF19L1, FXN*, GRM1, PEX7, PHYH, PNPLA6, RFC1, RUBCN, SACS, SETX, SIL1, SLC52A2, SNX14, STUB1, SYNE1, TPP1, TTPA, TWNK, VWA3B, WFS1
FXN* FXN* FXN* FXN* FXN* FXN* FXN* FXN* FXN
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP
ABCB7, CASK, FMR1*, OPHN1, SLC9A6

CHARACTERISTICS

Other services

DESCRIPTION

We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases. 

DESCRIPTION

We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.

DESCRIPTION

We use the MLPA technique (Multiplex Ligation-dependent Probe Amplification) for the identification of deletions/duplications or methylation alterations in a methylation alterations in a specific gene or region.

DESCRIPTION

The term 'movement disorders' refers to a group of nervous system conditions that cause an increase in abnormal movements, which may be voluntary or involuntary. Movement disorders can also cause slow or reduced movements. We offer the study of the main movement disorders such as dystonia and Parkinson's disease.

Parkinson's disease

ATP13A2, COQ2, DNAJC6, FBXO7, GBA, LRRK2, MAPT, PARK7 (DJ1), PINK1, PRKN, PODXL, SLC6A3, SNCA, SYNJ1, VPS13C, VPS35
GBA, LRRK2, PARK7 (DJ1), PINK1, PRKN, SNCA, VPS13C, VPS35
ATP13A2,DJ1, DNAJC6, FBXO7, GBA, PINK1, PODXL, PRKN, SLC6A3, SYNJ1, VPS13C

Parkinsonian disorders

ATP6AP2, COQ2, DCTN1, GCH1, LRRK2, LYST, MAPT, NUS1, OPA1, PLA2G6, PTRHD1, RAB39B, SPG11, TWNK, ZFYVE26, SYNJ1, VPS13C

Dystonia

ANO3, ADAR, ARSA, ATN1, ATP13A2, ATP1A3, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, ECHS1, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GNAL, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, KMT2B, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKN, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SPR, SUCLA2, TAF1, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TUBB4, VPS13A, WDR45, XK, XPR1
ANO3, GNAL, KMT2B, THAP1, TOR1A, TUBB4
ATP1A3, GCH1, SPR, TAF1, TH.
ADAR, ARSA, ATN1, ATP13A2, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GLB1, GM2A, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PARK2, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1 POLG, PPT1, PRKN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SLC19A3, SLC20A2, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SUCLA2, TIMM8A, TPP1, TREX1, VPS13A, WDR45, XK, XPR1.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Dementia is an umbrella term that describes a wide range of symptoms associated with memory impairement and other thinking skills, leading to a reduction in a person's ability to carry out daily activities. Alzheimer's disease accounts for 60-80% of cases. The study of genes associated with different types of dementia is included.

APP, APOE (e4 allele), C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP
APP, APOE (e4 allele), C9orf72, GRN, MAPT, PSEN1, PSEN2, TREM2
MAPT, PSEN1, PSEN2, TREM2
C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP

CHARACTERISTICS

DESCRIPTION

Neuromuscular diseases are a group of more than 150 progressive and chronic neurological conditions, mostly of genetic origin, which cause loss of muscle strength and associated muscle and nerve degeneration. Through the different panels we address the study of various neuromuscular diseases such as neuropathies, myopathies and muscular dystrophies, diseases with motor neuron involvement and myasthenic syndromes as well as other syndromes with hypotonia, myotonia and/or weakness.

Motor neurone disease

AGTPBP1, ALS2, ANG, ANXA11, ATXN2, AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, C9ORF72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, DES, DNAJB2, DYNC1H1, EPHA4, ERBB4, ERLIN2, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4, FUS, GARS1, GLE1, GLT8D1, HNRNPA1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, MATR3, MOBP, MYH14, NAIP, NEFH,NEK1, OPTN, PFN1, PLEKHG5, PON1, PON2, PON3, PPARGC1A, PRPH, REEP1, SCFD1, SEPSECS SETX, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBCE, TBK1, TREM2, TRIP4, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TUBA4A, UBA1, UBQLN2, UNC13A, VAPB, VCP, VRK1, VWA1.
ALS2, ANG, ANXA11, ATXN2, C9orf72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, EPHA4, ERBB4, FIG4, FUS, GLE1, GLT8D1, HNRNPA1, MATR3, MOBP, NEFH,NEK1, OPTN, PFN1, PON1, PON2, PON3, PPARGC1A, PRPH, SCFD1, SETX, SIGMAR1, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, UNC13A, VAPB, VCP.
C9ORF72, CHCHD10, FUS, SQSTM1, TARDBP, TBK1, VCP.

Neuropathies

AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1, AP1S1, APOA1, APTX, AR, ARHGEF10, ARSA, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CD59, CHCHD10, CLCF1, CNTNAP1, COA7, COX10, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, DARS2, DCTN1, DCTN2, DCAF8, DGAT2, DEGS1, DHTKD1, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, ETFDH, FAH, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FLRT1, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXB, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, IARS2, IBA57, IGHMBP2, INF2, JPH1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NDRG1, NEFH, NEFL, NGF, NOD2, NTRK1, OPA1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTRH2, RAB7A, RAI1, REEP1, RETREG1, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SORD, SOX5, SOX10, SPAST, SPTAN1, SPG11, SPG7, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TFG, TRIM2, TRIP4, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XRCC1, YARS1, ZFYVE26.
AARS1, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CNTNAP1, COA7, COX6A1, CTDP1, DCTN1, DCTN2, DCAF8, DGAT2, DHTKD1, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FBLN5, FBXO38, FGD4, FIG4, FLRT1,FXN, GAN, GARS1, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IBA57, IGHMBP2, INF2, KARS1, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, NAGLU, NDRG1, NEFH, NEFL OPA1, PDK3, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, RAI1, SBF1, SBF2, SCO2, SCYL1,SETX, SH3TC2, SIGMAR1, SGPL1, SLC12A6, , SLC25A46, SLC52A2, SLC52A3, , SORD, SOX5, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1, YARS1
AARS, AGTPBP1, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, FBXO38, GARS, GSN, HARS, HEXB, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, MFN2, MORC2, PLEKHG5, REEP1, SETX, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SPTAN1, SYT2, TFG, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS1.
ATL1, ATL3, DNMT1, DST, RETREG1, ELP1, KIF1A, NGF, NTRK1, PRDM12, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK.

Congenital Myasthenia

AGRN, AK9, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DES, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MACF1, MUSK, MYO9A, PLEC, PREPL, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1.

Myopathies

AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, ANO5, B3GALNT2, B4GAT1, BCS1L, BIN1, BVES, C1QBP, CACNA1S, CAPN3, CASQ1, CAVIN1, CCDC174, CCDC78, CFL2, CHCHD10, CHKB, CNBP, CNTN1, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, COQ9, COX10, COX15, COX6A2, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DMPK, DNA2, DNAJB6, DNM2, DNMT3B, DPM2, DPM3, DUX4, DYSF, EARS2, ECHS1, EMD, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FHL1, FKRP, FKTN, FLAD1, FLNC, FOXRED1, FRG1, GAA, GBE1, GFER, GIPC1, GMPPB, GNE, GYG1, GYS1, HACD1, HADHA, HADHB, HNRNPDL, HSPG2, ISCU, ITGA7, KIF21A, KLHL40, KLHL41, LAMA2, LARGE1, LDB3, LDHA, LIG3, LIMS2, LMNA, LMOD3, LPIN1, LTBP4, MAMLD1, MAP3K20, MATR3, MGME1, MICU1, MICU1, MSTO1, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYOT, MYPN, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFBB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NUBPL, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHOX2A, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SDHA, SDHAF1, SDHB, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SLC16A1, SLC22A5, SLC25A32, SMCHD1, SPEG, STAC3, STIM1, SYNE1, SYNE2, TAZ, TCAP, TIA1, TIMMDC1, TK2, TMEM126B, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, TWNK, TYMP, VMA21, YARS2, TNT1, TNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, TWNK, TYMP, VMA21, YARS2
ACTA1, ANO5, B3GALNT2, B4GAT1, BVES, CAPN3, CHKB, CNBP, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DMPK, DNAJB6, DNMT3B, DPM2, DPM3, DUX4, DYSF, EMD, FHL1, FKRP, FKTN, FRG1, GIPC1, GMPPB, HNRNPDL, HSPG2, ITGA7, KIF21A, LAMA2, LARGE1, LIMS2, LMNA, LTBP4, MYH7, MYOT, NOTCH2NLC, PABPN1, PHOX2A, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, SGCA, SGCB, SGCD, SGCG, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, VMA21
DNMT3B, DUX4, FHL1, FRG1, MYH7, SMCHD1
ANO5, BVES, CAPN3, CRPPA, DAG1, DNAJB6, DYSF, FKRP, FKTN, GMPPB, HNRNPDL, LIMS2, MYOT, PLEC, POGLUT1, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN.
EMD, FHL1, LMNA, SYNE1, SYNE2, TMEM43, TTN.
ANO5, CAV3, CRYAB, DES, DNAJB6, DYSF, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, NEB, TIA1, TCAP, TTN.
ACTA1, BIN1, CASQ1, CCDC174, CCDC78, CFL2, CNTN1, DNM2, FHL1, HACD1, ITGA7, KLHL40, KLHL41, LMOD3, MAMLD1, MAP3K20, MEFF10, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYPN, NEB, ORAI1, RYR1, SELENON, SPEG, STAC3, STIM1, TNNT1, TPM2, TPM3, TTN.
ACTA1, CFL2, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3.
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, BCS1L, C1QBP, CACNA1S, CASQ1, CAVIN1, CHCHD10, CHKB, COQ2, COQ8A, COQ9, COX10 COX15, COX6A2, CPT2, DGUOK, DNA2, EARS2, EARS2, ECHS1, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FLAD1, FOXRED1, GAA, GBE1, GFER, GYG1, GYS1, HADHA, HADHB, ISCU, LAMP2, LDHA, LIG3, LPIN1, MGME1, MICU1, MSTO1, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PNPLA2, PNPLA8, POLG, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, SDHA, SDHAF1, SDHB, SDHD, SLC16A1, SLC22A5, SLC25A32, TAZ, TIMMDC1, TK2, TMEM126B, TWNK, TYMP, YARS2.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Leukodystrophies represent a heterogeneous group of hereditary degenerative myelin diseases of the brain that result in extensive white matter involvement. The clinical there is a wide-range of different clinical manifestations which makes diagnosis difficult. This study involves the analysis of 72 genes related to different types of leukodystrophy.

AARS2, ABCD1, ACER3, ACOX1, ADAR, AIFM1, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, CLCN2, COA8, CSF1R, CYP27A1, DARS1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, FUCA1, GALC, GBE1, GFAP, GJA1, GJC2, HEPACAM, HIKESHI, HSD17B4, HSPD1, IFIH1, ISCA2, LMNB1, MLC1, MTHFS, NADK2, NDUFA2, NKX6-2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR1C, POLR3A, POLR3B, PSAP, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, SAMHD1, SCP2, SLC17A5, SOX10, SUMF1, TREM2, TREX1, TUBB4A, TYROBP, UFM1, VPS11

CHARACTERISTICS

DESCRIPTION

Hereditary spastic paraparesis (HSP) comprises a genetically and clinically heterogeneous group of neurodegenerative disorders whose predominant signs and symptoms are weakness and spasticity of the lower limbs. We offer different approaches for the study of various types of spastic paraparesis as well as a general panel that includes 82 genes associated with the pathology.

ADAR, ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2A4, B4GALNT1, BICD2, BSCL2, C19orf12, CAPN1, CCT5, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, AGO1, HSPD1, IBA57, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, MAG, MARS1, MTRFR, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RTN2, SELENOI, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG24, SPG7, TECPR2, TFG, TUBB4A, UBAP1, USP8, VCP, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27
ALDH18A1,ATAD3A, BICD2, BSCL2, DNM2, FAR1,KIF5A, KIDINS220, SPG7, TUBB4A, VCP.
ATL1, ATP2B4, CPT1C, KIF1A, ERLIN2,HSPD1, NIPA1, REEP1, REEP2, RTN2, SLC33A1, SPAST, SPG7, UBAP1, WASHC5, ZFYVE27.
ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ARSI, ATP13A2, B4GALNT1, C19orf12, CAPN1, CCT5, DDHD2, DSTYK, ENTPD1, ERLIN2, FA2H, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, IBA57, KIF1A, KIF1C, KLC2,KLC4, KY, MAG, MARS1, MTRFR, NT5C2, PGAP1, PNPLA6, RAB3GAP2, SELENOI, SPART, SPG21, TECPR2, TFG, USP8, VPS37A, WDR48, ZFYVE26.
CYP7B1, DDHD1, ERLIN1, REEP2, SPG7, SPG11, SPG24, ZFR.

CHARACTERISTICS

DESCRIPTION

Epilepsy is a disorder of the central nervous system in which normal brain activity is disturbed, causing seizures or periods of unusual behaviour and sensations, and even loss of consciousness. The underlying causes are multiple and heterogeneous. Through different studies we analyse various epilepsy phenotypes. We also include a specific panel for the study of epileptic syndromes of neonatal and infantile onset, as well as a general panel for more complex cases.

AARS1, ABAT, ACOX1, ACTL6B, ADAR, ADGRV1, ADRA2B, AFG3L2, AKT1, AKT3, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARV1, ARFGEF2, ARHGEF9, ARX, ASAH1, ATP1A2, ATP1A3, ATP13A2, ATP6V1A, ATXN1, BRAT1, BRD7, BTD, C3ORF33, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CCM2, CDKL5, CDK19, CELF2, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6 , CLN8, CLCN2, CLTC, CNPY3, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CPLX1, CSTB, CTNND2, CTSD, CYFIP2, DALRD3, DCX, DEPDC5, DHDDS, DMXL2, DNAJC5, DNM1, EFHC1, EEF1A2, EPM2A, FANCL, FGF12, FGF13, FKRP, FKTN, FLNA, FMR1, FOLR1, FOXG1, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAL, GBA, GJA3, GLI3, GNAQ, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HCN1, ICK, HEATR3, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNC1, KCNN2, KCNQ2, KCNQ3, KCNT1, LARGE1, LGI1, LMNB2, MAPK10, MECP2, MFSD8, NECAP1, NUS1, NEUROD2, NHLRC1, NPRL2, NPRL3, NTRK2, PAFAH1B1, PARS2, PCDH19, PCDH7, PDCDH10, PHACTR1, PIK3CA, PIK3R2, PIGA, PIGP, PIGQ , PLCB1, PNKP, PNPO, POMT1, POMT2, POLG, PPT1, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RELN, RNASEH2A, RNASEH2B, RNASEH2C,SAMD12, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SIK1, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22, SLC33A1, SLC6A1, SNX27, SPTAN1, STXBP1, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPK1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TUBA1A, WDR45,WDR62, UBA5, YEATS2, WWOX, YWHAG, ZEB2.
AARS1, ACTL6B, ADAR, ADGRV1, AP3B2, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CDKL5, CDK19, CELF2, CHD2, CILK1, CLCN2, CLTC, CNPY3, CNKSR2, CPLX1, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EFHC1, EEF1A2, FGF12, FGF13, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GLI3, GNAQ, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNQ2, KCNQ3, KCNT1, MAPK10, NECAP1, NUS1, NEUROD2, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, PPP3CA, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SCN1A, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SPTAN1, ST3GAL3, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22,SPTAN1, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, WDR45, UBA5, WWOX, YWHAG.
AARS1, ACTL6B, ADAR, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CASK, CDK19, CDKL5, CELF2, CHD2, CLTC, CNKSR2, CNPY3, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EEF1A2, FGF12, FGF13, GABRA1, GABRG2, GABRA2, GABRA5, GABRB2, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1 , IQSEC2, KCNA1,KCNB1, KCNQ2, KCNT1, MAPK10, NECAP1, NEUROD2,NTRK2, NUS1, PARS2, PDCH19, PHACTR1, PIGA PIGP, PIGQ,PLCB1, PNKP, PPP3CA, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A,SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A22,SPATAN, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, UBA5, WWOX, WDR45.
ADGRV1, GABRD, GABRG2, HCN1, KCNMA1, SCN1A, SCN2A, SCN9A, SCN1B, STX1B.
ADGRV1, GABRD, GABRG2, HCN1, SCN1A, SCN1B, SCN2A, SCN9A, STX1B.
AKT3, CCM2, CHRNA2, CHRNA4, CHRNB2, CNTNAP2, COL4A1, COL4A2, CPA6, DEPC5, GAL, GNAQ, GRIN1, GRIN2A, GRIN2B, KCNT1, KCNQ2, NPRL2, NPRL3, PDCD10, PIK3CA, PIGA, PLCB1, RELN, SCN3A, SCN1A, SCN2A, SLC12A5, SLC25A22, TBC1D24.
ADRA2B, AFG3L2, AP2M1, ASAH1, ATP13A2, CACNB4, CERS1, CHD2, CILK1, CLCN2, CLN3, CLN5, CLN6 , CLN8,CNTN2, CTNND2, CPLX1, CSTB, CTSD, CTSF, DNAJC5, EFHC1, EPM2A, FOLR1, GABRA1, GABRD, GBA, GOSR2, GRN, ICK, JRK, KCNC1, KCTD7, KCNQ3, LMNB2, MFSD8, NHLRC1, PINI1, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, SAMD12, SCARB2, SERPINI1, SLC2A1, SLC6A1, SNX27, SURF1, SYNGAP1, TBC1D24, TPK1, TPP1.
CPLX1, TBC1D24, CACNB4, CLCN2, CILK1, EFHC1, GABRA1, GABRD, JRK, KCNQ3.

CHARACTERISTICS

DESCRIPTION

Autism Spectrum Disorders (ASD) are defined as a chronic neurological dysfunction that can manifest through a series of symptoms related to social interaction, communication and lack of flexibility in reasoning and behaviour. The complexity of the clinical manifestations suggests a multi-causal aetiology with genetic alterations being the main cause. Using a targeted exome, we analyse more than 420 genes with a proven association with ASD.

ADNP, ACHE, ACTB, ADA, ADCY3, ADSL, AFF2, AGAP2, AHDC1, AHNAK, AKAP9, ALDH5A1, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANXA1, AP2S1, APBB1, APH1A, ARHGEF9, ARID1B, ARX, ASAP2, ASH1L, ASPM, ASTN2, ASXL3, ATP10A, ATP2B2, ATRX, AUTS2, AVPR1A, BAZ2B, BCKDK, BCL11A, BICRA, BRAF, BRSK2, BTAF1, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1H, CACNA2D3, CACNB2, CAPRIN1, CASK, CASZ1, CC2D1A, CCNG1, CCT4, CDC42BPB, CDH13, CDKL5, CELF4, CEP135, CEP41, CGNL1, CHAMP1, CHD2, CHD3, CHD7, CHD8, CHMP1A, CHRNA7, CIB2, CIC, CLASP1, CNKSR2, CNOT1, CNOT3, CNR1, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CORO1A, CPEB4, CREBBP, CSDE1, CTCF, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL7, CUX1, CYFIP1, DAPP1, DCC, DDHD2, DDX3X, DEAF1, DENR, DHCR7, DIP2A, DIP2C, DISC1, DLG2, DLG4, DLGAP1, DLX3, DMPK, DNMT3A, DOCK8, DPP10, DPYSL2, DSCAM, DYNC1H1, DYRK1A, EBF3, EFR3A, EHMT1, EIF3G, ELAVL3, ELP2, ELP4, EMSY, EP300, EP400, ERBIN, ETFB, FBN1, FGFR1, FMR1, FOXG1, FOXP1, FOXP2, FRG1, GABRB2, GABRB3, GABRG3, GALNT10, GALNT8, GFAP, GGNBP2, GIGYF1, GIGYF2, GNAI1, GPC4, GPHN, GRIA1, GRIA2, GRID1, GRIK2, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, HDLBP, HECTD4, HECW2, HIVEP2, HIVEP3, HMGN1, HNRNPD, HNRNPF, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HRAS, ICA1, ILF2, INTS6, IQSEC2, IRF2BPL, ITGB3, JARID2, KANSL1, KAT2B, KAT6A, KATNAL2, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNS3, KDM3B, KDM4C, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0232, KIAA1586, KIF14, KIF1A, KIRREL3, KMT2A, KMT2C, KMT2E, KMT5B, LAMB1, LDB1, LEO1, LMX1B, LRP1, LRRC4C, LZTR1, MACROD2, MAGEL2, MAP1A, MAPT-AS1, MBD5, MBOAT7, MECP2, MED13, MED13L, MEF2C, MEIS2, MET, MFRP, MIR137, MKX, MSL3, MSNP1, MTOR, MYH10, MYH9, MYO5A, MYO9B, MYT1L, NAA15, NACC1, NAV2, NBEA, NCKAP1, NCOA1, NCOR1, NEXMIF, NF1, NFE2L3, NINL, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NR3C2, NR4A2, NRXN1, NRXN2, NRXN3, NRXN1, NRXN3, NSD1, NSD2, NUAK1, NUDCD2, NUP155, OPHN1, OR52M1, OTUD7A, OXTR, P2RX5, P4HA2, PACS1, PAH, PAK2, PARD3B, PAX5, PCCB, PCDH19, PER2, PHB, PHF12, PHF2, PHF21A, PHF3, PHF7, PHIP, PHRF1, PLCB1, PLXNA4, PLXNB1, POGZ, POMGNT1, PON1, PPP1R9B, PPP2R5D, PPP5C, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKD2, PRKN, PRODH, PRR12, PSMD12, PTCHD1, PTCHD1-AS, PTEN, PTK7, PTPN11, PYHIN1, QRICH1, RAB2A, RAB43, RAI1, RALGAPB, RANBP17, RBFOX1, RBM27, RELN, RERE, RFX3, RIMS1, ROBO2, RORB, SAE1, SATB1, SBF1, SCAF4, SCN1A, SCN2A, SCN8A, SCN9A, SEMA5A, SET, SETBP1, SETD2, SETD5, SHANK1, SHANK2, SHANK3, SHOX, SIN3A, SIN3B, SKI, SLC12A5, SLC35B1, SLC38A10, SLC6A1, SLC6A3, SLC7A3, SLC7A5, SLC9A6, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCC2, SNX5, SON, SORCS3, SOX5, SPARCL1, SPAST, SPEN, SPTBN1, SRCAP, SRPRA, SRSF11, ST8SIA2, STXBP1, STXBP5, SUPT16H, SYN1, SYNGAP1, TAF6, TANC2, TAOK1, TAOK2, TBC1D31, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TEK, TERF2, TET2, TLK2, TM9SF4, TMLHE, TNRC6B, TRAF7, TRAPPC9, TRIM23, TRIO, TRIP12, TRPC6, TRPM1, TSC1, TSC2, TSHZ3, UBE3A, UBE3C, UBN2, UBR1, UBR5, UNC79, UPF3B, USP15, USP45, USP7, USP9X, VEZF1, VIL1, VPS13B, WAC, WDFY3, WDFY4, WWOX, ZBTB20, ZC3H4, ZMIZ1, ZMYM2, ZMYND11, ZMYND8, ZNF292, ZNF462, ZNF804A.

CHARACTERISTICS

DESCRIPTION

Intellectual disability refers to a group of cognitive disorders of heterogeneous and complex cause with a genetic component in most cases. Advances in genetics have increased the diagnostic rate of current studies by up to 30-40% of patients. Our targeted exome analyses more than 580 genes associated with intellectual disability.

AAAS, AASS, ABAT, ABCB11, ABCD1, ABHD5, ACADS, ACSL4, ADAT3, ADGRG1, ADSL, AGA, AGTR2, AHI1, AIMP1, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, AMT, AP1G1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARSA ARX, ASH1L, ASPA, ASPM, ASXL1, ASXL3, ATP6AP2, ATP7A, ATP8A2, ATRX, AUH, B3GALNT2, B3GLCT, B3GNT2, B4GALT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BRAF, BRCA2, BRIP1, BRSK2, BRWD3, BSCL2, BTD, C5ORF42, C12ORF4, CA2, CA8, CACNA1C, CACNG2, CAMK2A, CAMK2B, CANT1, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CD96, CDH15, CDK5RAP2, CDKL5, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CHD7, CHKB, CHMP1A, CIC, CLIC2, CLIP1, CLN3, CLCN4, CLN5, CLN6, CLN8, CLTC, CNKSR2, COG1, COG4, COG5, COG6, COG7, COG8, COL2A1, COL4A1, COMP, COQ2, COQ4, COQ6, COQ8A, COQ9, CPS1, CRADD, CRBN, CRPPA, CSNK2B, CSNK2B, CSPP1, CTCF, CTNNB1, CTSA, CTSD, CUL4B, CUX1, CYB5R3, CYP27A1, DARS2, DCPS, DCX, DDC, DDOST, DDX59, DHCR7, DKC1, DLG3, DLL1, DNAJC19, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPF2, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EDC3, EEF1A2, EIF2S3, EPB41L1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZR, FAM126A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FMN2, FOXG1, FOXL2, FRMPD4, FRRS1L, FTCD, FTSJ1, FUCA1, GABRG2, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDI1, GFAP, GJB1, GJB6, GJC2, GK, GLB1, GLDC, GLI3, GLYCTK, GM2A, GMPPB, GNAS, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GPI, GRIA3, GRIK2, GRIN1, GRIN2B, GRM7,GSS, GUSB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HGSNAT, HIVEP2, HNMT, HPRT1, HRAS, HSD17B10, HSPD1, HSPG2, HUWE1, HYAL1, HYLS1, IDS, IDUA, IGBP1, IL1RAPL1, INPP5E, INSR, IQSEC2, ITPR1, JAG1, KATNIP, KCNC3, KCNJ10, KCNQ5, KDM5B, KDM5C, KDM6A, KIAA0586, KIF1A, KIF7, KIRREL3, KMT2D, KNL1, KRAS, L1CAM, L2HGDH, LAMA2, LAMP2, LARGE1, LINS1, LMAN2L, LRP5, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MBD5, MBOAT7, MCOLN1, MCPH1, MECP2, MED12, MED23, MED25, METTL23, MFSD8, MGAT2, MID1, MID2, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MVK, MYCN, MYO5A, MYT1L, NAA10, NAGLU, NBN, NBEA, NCDN, NDE1, NDP, NDST1, NECTIN1, NEMF, NEXHIF, NFIX, NGLY1, NHS, NIPBL, NLGN4X, NLRP3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NSD1, NSDHL, NSUN2, NTRK1, OCRL, OFD1, OPA3, OPHN1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PAX3, PAX6, PCBD1, PCCA, PCDH19, PDHA1, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHC1, PHF6, PHF8, PIBF1, PIGL, PLA2G6, PLP1, PMM2, PNKP, PNP, PNPO, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PPT1, PPP3CA, PQBP1, PRKAR1A, PRICKLE2, PRPS1, PRSS12, PSAP, PTCH1, PTCHD1, PTEN, PTPN11, PTS, QDPR, RAB11A, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD51C, RAF1, RARS2, RBM10, RECQL4, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RPS6KA3, RSRC1, RXYLT1, SACS, SAMHD1, SAR1B, SARS1, SBDS, SC5D, SCN1A, SCN2A, SCN9A, SEMA3E, SEPSECS, SET, SETBP1, SETD1B, SGSH, SH3PXD2B, SHROOM4, SIL1, SLC12A2, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC25A15, SLC25A22, SLC2A1, SLC45A1, SLC9A7, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A19, SLC6A8, SLC7A7, SLC9A6, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SOS1, SOX11, SOX3, SOX4, SPAST, SPG11, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STEEP1, STIL, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TAT, TAOK1, TBCE, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TECR, TGFBR1, TGFBR2, TIMM8A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TNIK, TPI1, TPP1, TRAPPC9, TREM2, TREX1, TRIM32, TRPM3, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTC5, TTC8, TUBA1A, TUBB4A, TUSC3, TWIST1, TYROBP, UBE2A, UBE3A, UBE4A, UBR1, UFSP2, UMPS, UPF3B, UROC1, USP27X, USP9X, VLDLR, VPS13B, VRK1, WASHC4, WDPCP, WDR62, ZC3H14, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZMYND11, ZNF335, ZNF423, ZNF711, ZNF81.
ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ALG13, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GABRE, GDI1, GK, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, STEEP1, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81.

CHARACTERISTICS

DESCRIPTION

Ataxia is a motor disorder characterized by a decreased ability to coordinate movements, manifesting as tremor of body parts during voluntary movements, difficulty in making precise movements or difficulty in maintaining balance.

AAAS, ABCB7, ABHD12, ADCK3, ADGRG1, AFG3L2, AHI1, ALDH5A1,ANO10, APTX, ARL13B,ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8,BEAN1, CA8, CACNA1A, CACNB4, CAMTA1, CC2D2A, CCDC88C, CEP290, CHMP1A, CHP1, CLCN2, CLN5, COA7, COQ2, COQ5, COQ8A, COQ9, COX20, CP, CRPPA, CSTB,CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5,EXOSC3, FAT2, FGF14, FLVCR1, FMR1, FXN, GALC, GBA2, GPR56, GRID2, GRM1, GSS, TPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226, KIF1C, L2HGDH, LARGE1, KIF1C,, MARS2, MECP2, MRE11, MTPAP, MTTP, NEU1, NHLRC1, NKX6-2, NPC1, NPC2, NOP56, OPA1, OPA3, OPHN1, PAX6, PCNA, PDYN, PHYH, PIK3R5, PLA2G6, PLEKHG4, PNKP, PNPLA6, POLG, POLH, POMGNT2, PPP2R2B, PRICKLE1, PRKCG RARS2, RFC1, RNF170,RPGRIP1L, RUBCN, SACS, SAR1B, SEPSECS, SETX, SCN2A, SCN8A, SETX, SIL1, SLC17A5, SLC1A3, SLC2A1, SLC52A2, SLC9A6, SMPD1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TMEM67, TSEN2, TSEN54, TTBK2, TTPA, TPP1, TTBK2, TTPA, TUBB4A, TWNK, VAMP1, VLDLR, VLDLR, VPS13A, VWA3B, WDR81, WFS1, WWOX, ZNF592
AFG3L2, ATN1, ATP1A3, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN, C9orf72, CACNA1A, DNMT1, EEF2, FGF12, FGF14, GRID2, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, TBP, TGM6, TMEM240, TTBK2, TUBB4A
ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A, PPP2R2B, TBP
AFG3L2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8, BEAN, CACNA1A, EEF2, ELOVL5, FAT2, FGF14, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, STUB1, TBP, TGM6, TMEM240, TTBK2
ADCK3, COQ5, SMPD1, SYNE1, NPC1, NPC2
ATP1A3, CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3
AFG3L2, CHP1, KIF1C, MARS2*, MTPAP, NKX6-2, SACS, SPG7, VAMP1
ANO10, APTX, ATM, CYP27A1, CWF19L1, FXN*, GRM1, PEX7, PHYH, PNPLA6, RFC1, RUBCN, SACS, SETX, SIL1, SLC52A2, SNX14, STUB1, SYNE1, TPP1, TTPA, TWNK, VWA3B, WFS1
FXN* FXN* FXN* FXN* FXN* FXN* FXN* FXN* FXN
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP
ABCB7, CASK, FMR1*, OPHN1, SLC9A6

CHARACTERISTICS

Other services

DESCRIPTION

We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases. 

DESCRIPTION

We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.

DESCRIPTION

We use the MLPA technique (Multiplex Ligation-dependent Probe Amplification) for the identification of deletions/duplications or methylation alterations in a methylation alterations in a specific gene or region.

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Genome Lab

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