Pediatrics

About 1% of babies are born with some type of genetic alteration and it is estimated that 25% of pediatric admissions are due to genetic diseases. The genetic study is the most efficient way to obtain a differential diagnosis among pediatric diseases, which is essential to select the most suitable treatment for each patient and to start it early. 

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

Inborn errors of the metabolism are a group of rare diseases caused by genetic defects that involve failure of the metabolic pathways. An increasing number of these syndromes can be treated if they are diagnosed at an early stage. We provide the study of 76 genes associated with the diseases included in the neonatal screening program recommended by the AEP, AAP and ACMG.

ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB ACADVL, ACAT1, ACOX1, ADA, AHCY, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CFTR, CPT1A, CPT2, CYP21A2, DBT, ETFA, ETFB, ETFDH, FAH, G6PC1, GAA, GALC, GALE, GALK1, GALT, GCH1, GCDH, GLA, GLDC, GNMT, GYS2, HADHA, HADHB, HBB, HCFC1, HLCS, HMGCL, HPD HSD17B10, IDUA, IVD, MAT1A, LMBRD1, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MTHFR, MTRR, NAGS, OTC, PAH, PCBD1, PCCA, PCCB, PTS, QDPR, SLC2A1, SLC22A5, SLC25A13, SLC25A20, TAT
ABCA1, ABCB4, ABCD1, ABCD4, ABCG5, ABCG8, ABCG8, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, AGA, AGL, AGPS, AGXT, AHCY, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CFTR, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CPT2, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DDOST, DHCR7,DMP1, DOLK, DPAGT1, DPM3, DPYD, ENO3, ENPP1, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FECH, FGF23,FLAD1, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCH1, GCDH, GHR, GK, GLA, GLB1, GLDC, GM2A, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GRHPR, GUSB, GYG1, GYS1, GYS2, HADHA, HADHB, HBB, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HGSNAT, HLCS, HMBS, HMGCL, HOGA1, HPD, HPRT1, HSD17B10,HSD3B2, HYAL1, IDS, IDUA, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LIPI, LMBRD1, LPA, LPL, MAGT1, MGAT2, MAT1A, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MPI, MTHFR, MTRR, NAGA, NAGLU, NAGS, NEU1, NGLY1, NPC1, NPC2, OTC, PAH, PCBD1, PCCA, PCCB, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, PMM2, POR, PPOX, PPT1, PRKAG2, PSAP, PTS, PYGL, PYGM, QDPR, RBCK1, RFKM, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC25A36, SLC2A1, SLC2A2, SLC37A4, SLC3A1, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SRD5A3, SUMF1, TAT, TFR2, TPP1, TUSC3, UGT1A1, UMPS, UROD, UROS

CHARACTERISTICS

DESCRIPTION

Congenital heart diseases are a group of diseases characterised by the presence of structural alterations of the heart caused by defects in its formation during the embryonic period. The vast majority of congenital heart diseases have a multifactorial aetiology, although it is estimated that 8-10% of the cases are due to a chromosomal anomaly, and 3-5% are associated with a monogenic syndrome. We include the study of 130 genes associated with syndromic and non-syndromic congenital heart disease. 

A2ML1, ABCC9, ACTA1, ACTC1, ACVR2B, ACVRL1, ANK2, ANKRD1, BMPR2, BRAF, CBL, CFC1, CFL2, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CREBBP, CRELD1, CHD7, DTNA, EFEMP2, EHMT1, ELN, ENG, EP300, EVC, EYA4, FBN1, FBN2, FLNA, FLT4, GAA, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, HACD1, HAND2, HRAS, ITGA7, JAG1, KANSL1, KCNA5, KCNE1, KCNE2, KCNJ2, KCNQ1, KCNJ8, KCNK3, KDM6A, KLHL40, KLHL41, KMT2D, KRAS, LDB3, LEFTY2, LMNA, LOX, LZTR1 ,MAP2K1, MAP2K2, MAP3K20, MCTP2, MED12, MED13L, MFAP5, MIB1, MIB2, MRAS, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYLK, NEB, NEXN, NF1, NKX2-5, NKX2-6, NOTCH1, NRAS, PKP2, PLEKHM2, PRDM16, PTPN11, RAF1, RASA1, RIT1, RRAS, RRAS2, SCN5A, SELENON, SHOC2, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SOS1, SOS2, SPRED1, TAB2, TBX1, TBX20, TBX4, TBX5, TGFB2, TGFB3, TGFBR1, TGFBR2, TNNC1, TNNI3, TNNI3K, TNNT1, TNNT2, TPM1, TPM2, TPM3, TTN, UPF3B, ZFPM2, ZIC3.

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

The term dysmorphology refers to a part of medical genetics that deals with the study of human malformations or congenital defects, which may have a genetic or environmental origin, accompanied or not by intellectual or psychomotor developmental delay. 

Bone malformations

ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DSPP, FAM46A, FGFR3, FKBP10, GORAB, IFITM5, KDELR2, LRP5, MBTPS2, MESD, NOTCH2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC26A2, SOX9, SP7, SPARC, TENT5A, TMEM38B, WNT1.
ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, AIFM1, ALPL, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARSB, ARSE, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, CA2, CANT1, CASR, CC2D2A, CCDC8, CCN6, CDC45, CDH3, CDKN1C, CDT1, CEP120, CEP290, CFAP410, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRTAP, CSPP1, CSTA, CTSK, CUL7, CYP27B1, DDR2, DHCR24, DHCR7, DHODH, DLL3, DLL4, DLX3, DLX5, DMP1, DOCK6, DVL1, DVL3, DYM, DYNC2H1, EBP, EED, EFTUD2, EIF2AK3, ENAM, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM83H, FBLN1, FBN1, FBN2, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FUCA1, FZD2, GALNS, GALNT3, GDF3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, GZF1, HDAC8, HES7, HESX1, HGSNAT, HOXA13, HOXD13, HPGD, HS2ST1, HSPG2, ICK, IDH1, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IKBKG, IL1RN, IMPAD1, INPPL1, KAT6B, KIAA0753, KIF22, KIF7, KMT2A, KMT2D, LARP7, LBR, LEMD3, LEPRE1, LFNG, LHX4, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP3, MAFB, MAN2B1, MAP2K1, MAP2K2, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MNX1, , MSX2, MTX2, MTAP, MYCN, NAGLU, NANS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRAS, NSD1, NSD2, NSDHL, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCNT, PCYT1A, PDE3A, PDE4D, PEX14, PEX19, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGV, PIK3C2A, PITX1, PKDCC, PITX2, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRKG2, PRMT7, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAD21, RAF1, RASGRP2, RBM8A, RBPJ, RECQL4, RIT1, RMRP, ROR2, RPGRIP1L, RPL13, RUNX2, SALL1, SALL4, SBDS, SCUBE3, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHOC2, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOS1, SOST, SOX9, SP7, SPARC, SRCAP, SUMF1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCIRG1, TCOF1, TCTEX1D2, TCTN3, TGDS, TGFB1, TGFB2, TGFB3, TGFBR2, TMEM165, TMEM216, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, UFSP2, WBP11, WDR19, WDR34, WDR35, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, ZMPSTE24.
DVL1, DVL3, NXN, ROR2, WNT5A.
COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, RNU4ATAC, SLC26A2, UFSP2.
COL10A1, DNAJC21, EFL1, MMP13, MMP9, PTH1R, RMRP, RUNX2, SBDS, SRP54.
ACAN, ACP5, B3GALT6, BGN, CANT1, CHST3, CFAP410, COL11A2, COL2A1, DDR2, EIF2AK3, FN1, GPX4, KIF22, LBR, MATN3, MBTPS1, MMP13, NKX3-2, PAPSS2, PCYT1A, PLCB3, PRKG2, RPL13, SGMS2, SLC39A13, SMARCAL1, TRAPPC2, TRIP11, TRPV4, UFSP2.
AGPS, ARSL, ARSE, EBP, GNPAT, LBR, MGP, NSDHL, PEX14, PEX19,PEX5, PEX7.
ABCC9, KCNJ8.

Craniofacial malformations

POLR1B, POLR1C, POLR1D, TCOF1.
ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1.
ALPL, ALX4, ANKRD11, CBL, CD96, COLEC10, COLEC11, CTSK, CYP26B1, EFNB1, ERF, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FLNA, FREM1, FUZ, GLI3, HUWEI, IFT122, IFT43, IFT52, IL11RA, KAT6A, LTBP1, LRP5, MASP1, MEGF8, MSX2, P4HB, POR, PPP3CA, RAB23, RECQL4, RSPRY1, RUNX2, SKI, SMAD6, SMO, SOX9, TCF12, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1, ZNF462.
AKT1, AKT3, ASPA, BRWD3, CHD8, DHCR24,DNMT3A, EXT2, EZH2, GFAP, GPC3, HERC1, HEPACAM, HUWE1, KIF7, MED12, MITF, MLC1, MTOR, NFIB, NFIX, NONO, NSD1, OFD1, PAK1, PIGA, PIGN, PIK3CA, PIK3R2, PTEN, RAB39B, RIN2, RNF135, SYN1, TBC1D7, TRIO.
AKT1, AKT3, APC2, ASPA, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DICER1, DIS3L2, DNMT3A, EED, EZH2, FGFR3, GLI3, GPC3, GPC4, GRIA3, HEPACAM, HERC1, HRAS, HUWE1, IGF2, KIF7, L1CAM, MED12, MLC1, MPDZ, MTOR, NFIX, NSD1, PDGFRB, PHF6, PIK3CA, PIK3R2, PTCH1, PTEN, RNF125, RNF135, SETD2, SUFU, SUZ12, TGFB3, TSC1, TSC2, UPF3B.
Region 11p15.5 (HG19, IGF2, CDKN1C, KCNQ1).
ACTB, ACTG1, ALG12, ALG3, ANKLE2, AMPD2, ASNS, ASPM, ATR, ATRX, ASXL1, C2CD3, CASC5, CASK, CKAP2L, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPF, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CIT, CKAP2L, CLP1, COPB2, CREBBP, CTNNB1, DIAPH1, DNM1L, DNMT3A, DONSON, DPM1, DPP6, DYNC1H1, DYRK1A, EFTUD2, EIF2S3, ERCC4, ERCC6, EXOSC3, FANCA, IER3IP1, KIF11, KIF14, KIF1BP, KIF2A, KIF5C, KNL1, LIG4, LMNB1, MBD5, MCPH1, MED17, MEIS2, METTL5, MFSD2A, MYCN, NCAPD3, NBN, NDE1, NHEJ1, NIN, NIPBL, ORC1, ORC4, ORC6, PAFAH1B1, PCNT, PCDH12, PHC1, PHGDH, PLK4, PNKP, POMT1, PQBP1, PSAT1, RAD21, RARS2, RBBP8, RNU4ATAC, RTTN, SASS6, SEPSECS, SLC25A19, SLC9A6, STAMBP, STIL, TAF13, TRAPPC10, TRAPPC14, TRMT10A, TSEN2, TSEN34, TSEN54, TUBB2B, TUBG1, TUBGCP4, TUBGCP6, VPS53, VRK1, WDR62,WDR73, XRCC4, ZEB2, ZNF335.

Congenital disorders of brain morphogenesis

AGTPBP1, AMPD2, ATD3A, CASK, CHMP1A, CLP1, COASY, EXOSC1, EXOSC3, EXOSC8, EXOSC9, MINPP1, PCLO, PPIL1, PRDM13, RARS2, SEPSECS, SLC25A46, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, VPS51, VPS53, VRK1.
ACTB, ACTG1, ADGRG1, APC2, ARX, B3GALNT2, B4GAT1, CDK5, CEP85L, COL4A1, COL6A1, COL6A2, COL6A3, CRADD, CRPPA, DCX, DYNC1H1, EOMES, FKRP, FKTN, FLNA, KATNB1, KIF2A, KIF5C, GMPPB, KATNB1, LAMA2, LAMB1, LARGE1, LMNA, MACF1, NDE1, PAFAH1B1, PHGDH, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RAB18, RAB3GAP1, RAB3GAP2, RELN, RXYLT1, SELENON, TBC1D20, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE.
ADGRG1, AKT3, CCND2, FIG4, OCLN, PI4KA, PIK3R2, PTEN, RTTN, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3.
AKT3, CCDC88C, CCND2, L1CAM, MPDZ, PIK3R2, TRIM71, ZIC2, ZIC3.
CDON, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, NODAL, PLCH1, PTCH1, SHH, SIX3, STAG2, STIL, SUFU, TDGF1, TGIF1, ZIC2.
AKT3, CCND2, HEPACAM, MLC1, PIK3CA, PIK3R2, STRADA, TBC1D7.

Connective Tissue Disorders

ABCC6, ABL1, ACTA2, ACVR1, ADA2, ADAMTS2, ADAMTSL4, ADAR, AEBP1, AKT1, ALDH18A1, ARF1, ARFGEF2, ASXL3, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BCR, BGN, BRAF, C12orf57, C1R, C1S, CAVIN1, CBS, CC2D2A, CHD7, CHRNG, CHST14, CHST3, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B, CRB2, CYP11B1, CYP17A1, DNMT3A, DSE, EFEMP2, ELN, ENG, ENPP1, EPHB4, ERMARD, EXT1, EXT2, FARSB, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FMR1, FOXE3, GAA, GABRD, GANAB, GATA5, GGCX, GMPPB, HGD, HLA-B, HPGD, HRAS, IFIH1, IL12B, KANSL1, KCNH1, KCNJ8, LETM1, LMNA, LOX, LRP5, LTBP4, MARS2, MAT2A, MED12, MFAP5, MKS1, MMADHC, MNX1, MSTN, MTHFR, MTR, MTRR, MYH11, MYH3, MYLK, MYPN, NDE1, NEDD4L, NKX2-5, NOD2, NOTCH1, NPPA, NSD2, NSMCE2, OFD1, PAM16, PBX1, PCNT, PEX12, PIEZO2, PIGN, PIGY, PISD, PKD1, PKP2, PLOD1, PLOD3, POR, PPP1CB, PRDM16, PRDM5, PRKAR1A, PRKCSH, PRKG1, PTEN, PTPN11, PTPN22, RAF1, RERE, RET, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, ROBO4, RPGRIP1L, RYR2, SALL4, SAMHD1, SEC61A1, SEC63, SEMA3E, SKI, SLC25A24, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMS, SOX10, STAT1, STAT3, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TMTC3, TNXB, TPM2, TPM3, TREX1, TSC1, TSC2, UBR1, UPF3B, WDR19, ZDHHC9, ZMPSTE24, ZNF469.
FBN1, TGFBR1, TGFBR2
ACTA2, BGN, CBS, COL11A1, COL11A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ELN, FBN1, FBN2, FOXE3, HNRNPK, LOX, MAT2A, MFAP5, MYH11, MYLK, PLOD1, PRKG1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR1, TGFBR2
ADAMTS2, ADAMTSL2 ,AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469

Other polymalformative syndromes

BRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3.

CHARACTERISTICS

Delivery time: 35-45 days 

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

Inborn errors of the metabolism are a group of rare diseases caused by genetic defects that involve failure of the metabolic pathways. An increasing number of these syndromes can be treated if they are diagnosed at an early stage. We provide the study of 76 genes associated with the diseases included in the neonatal screening program recommended by the AEP, AAP and ACMG.

ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB ACADVL, ACAT1, ACOX1, ADA, AHCY, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CFTR, CPT1A, CPT2, CYP21A2, DBT, ETFA, ETFB, ETFDH, FAH, G6PC1, GAA, GALC, GALE, GALK1, GALT, GCH1, GCDH, GLA, GLDC, GNMT, GYS2, HADHA, HADHB, HBB, HCFC1, HLCS, HMGCL, HPD HSD17B10, IDUA, IVD, MAT1A, LMBRD1, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MTHFR, MTRR, NAGS, OTC, PAH, PCBD1, PCCA, PCCB, PTS, QDPR, SLC2A1, SLC22A5, SLC25A13, SLC25A20, TAT
ABCA1, ABCB4, ABCD1, ABCD4, ABCG5, ABCG8, ABCG8, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, AGA, AGL, AGPS, AGXT, AHCY, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CFTR, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CPT2, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DDOST, DHCR7,DMP1, DOLK, DPAGT1, DPM3, DPYD, ENO3, ENPP1, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FECH, FGF23,FLAD1, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCH1, GCDH, GHR, GK, GLA, GLB1, GLDC, GM2A, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GRHPR, GUSB, GYG1, GYS1, GYS2, HADHA, HADHB, HBB, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HGSNAT, HLCS, HMBS, HMGCL, HOGA1, HPD, HPRT1, HSD17B10,HSD3B2, HYAL1, IDS, IDUA, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LIPI, LMBRD1, LPA, LPL, MAGT1, MGAT2, MAT1A, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MPI, MTHFR, MTRR, NAGA, NAGLU, NAGS, NEU1, NGLY1, NPC1, NPC2, OTC, PAH, PCBD1, PCCA, PCCB, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, PMM2, POR, PPOX, PPT1, PRKAG2, PSAP, PTS, PYGL, PYGM, QDPR, RBCK1, RFKM, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC25A36, SLC2A1, SLC2A2, SLC37A4, SLC3A1, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SRD5A3, SUMF1, TAT, TFR2, TPP1, TUSC3, UGT1A1, UMPS, UROD, UROS

CHARACTERISTICS

DESCRIPTION

Congenital heart diseases are a group of diseases characterised by the presence of structural alterations of the heart caused by defects in its formation during the embryonic period. The vast majority of congenital heart diseases have a multifactorial aetiology, although it is estimated that 8-10% of the cases are due to a chromosomal anomaly, and 3-5% are associated with a monogenic syndrome. We include the study of 130 genes associated with syndromic and non-syndromic congenital heart disease. 

A2ML1, ABCC9, ACTA1, ACTC1, ACVR2B, ACVRL1, ANK2, ANKRD1, BMPR2, BRAF, CBL, CFC1, CFL2, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CREBBP, CRELD1, CHD7, DTNA, EFEMP2, EHMT1, ELN, ENG, EP300, EVC, EYA4, FBN1, FBN2, FLNA, FLT4, GAA, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, HACD1, HAND2, HRAS, ITGA7, JAG1, KANSL1, KCNA5, KCNE1, KCNE2, KCNJ2, KCNQ1, KCNJ8, KCNK3, KDM6A, KLHL40, KLHL41, KMT2D, KRAS, LDB3, LEFTY2, LMNA, LOX, LZTR1 ,MAP2K1, MAP2K2, MAP3K20, MCTP2, MED12, MED13L, MFAP5, MIB1, MIB2, MRAS, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYLK, NEB, NEXN, NF1, NKX2-5, NKX2-6, NOTCH1, NRAS, PKP2, PLEKHM2, PRDM16, PTPN11, RAF1, RASA1, RIT1, RRAS, RRAS2, SCN5A, SELENON, SHOC2, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SOS1, SOS2, SPRED1, TAB2, TBX1, TBX20, TBX4, TBX5, TGFB2, TGFB3, TGFBR1, TGFBR2, TNNC1, TNNI3, TNNI3K, TNNT1, TNNT2, TPM1, TPM2, TPM3, TTN, UPF3B, ZFPM2, ZIC3.

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

The term dysmorphology refers to a part of medical genetics that deals with the study of human malformations or congenital defects, which may have a genetic or environmental origin, accompanied or not by intellectual or psychomotor developmental delay. 

Bone malformations

ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DSPP, FAM46A, FGFR3, FKBP10, GORAB, IFITM5, KDELR2, LRP5, MBTPS2, MESD, NOTCH2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC26A2, SOX9, SP7, SPARC, TENT5A, TMEM38B, WNT1.
ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, AIFM1, ALPL, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARSB, ARSE, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, CA2, CANT1, CASR, CC2D2A, CCDC8, CCN6, CDC45, CDH3, CDKN1C, CDT1, CEP120, CEP290, CFAP410, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRTAP, CSPP1, CSTA, CTSK, CUL7, CYP27B1, DDR2, DHCR24, DHCR7, DHODH, DLL3, DLL4, DLX3, DLX5, DMP1, DOCK6, DVL1, DVL3, DYM, DYNC2H1, EBP, EED, EFTUD2, EIF2AK3, ENAM, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM83H, FBLN1, FBN1, FBN2, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FUCA1, FZD2, GALNS, GALNT3, GDF3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, GZF1, HDAC8, HES7, HESX1, HGSNAT, HOXA13, HOXD13, HPGD, HS2ST1, HSPG2, ICK, IDH1, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IKBKG, IL1RN, IMPAD1, INPPL1, KAT6B, KIAA0753, KIF22, KIF7, KMT2A, KMT2D, LARP7, LBR, LEMD3, LEPRE1, LFNG, LHX4, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP3, MAFB, MAN2B1, MAP2K1, MAP2K2, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MNX1, , MSX2, MTX2, MTAP, MYCN, NAGLU, NANS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRAS, NSD1, NSD2, NSDHL, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCNT, PCYT1A, PDE3A, PDE4D, PEX14, PEX19, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGV, PIK3C2A, PITX1, PKDCC, PITX2, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRKG2, PRMT7, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAD21, RAF1, RASGRP2, RBM8A, RBPJ, RECQL4, RIT1, RMRP, ROR2, RPGRIP1L, RPL13, RUNX2, SALL1, SALL4, SBDS, SCUBE3, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHOC2, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOS1, SOST, SOX9, SP7, SPARC, SRCAP, SUMF1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCIRG1, TCOF1, TCTEX1D2, TCTN3, TGDS, TGFB1, TGFB2, TGFB3, TGFBR2, TMEM165, TMEM216, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, UFSP2, WBP11, WDR19, WDR34, WDR35, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, ZMPSTE24.
DVL1, DVL3, NXN, ROR2, WNT5A.
COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, RNU4ATAC, SLC26A2, UFSP2.
COL10A1, DNAJC21, EFL1, MMP13, MMP9, PTH1R, RMRP, RUNX2, SBDS, SRP54.
ACAN, ACP5, B3GALT6, BGN, CANT1, CHST3, CFAP410, COL11A2, COL2A1, DDR2, EIF2AK3, FN1, GPX4, KIF22, LBR, MATN3, MBTPS1, MMP13, NKX3-2, PAPSS2, PCYT1A, PLCB3, PRKG2, RPL13, SGMS2, SLC39A13, SMARCAL1, TRAPPC2, TRIP11, TRPV4, UFSP2.
AGPS, ARSL, ARSE, EBP, GNPAT, LBR, MGP, NSDHL, PEX14, PEX19,PEX5, PEX7.
ABCC9, KCNJ8.

Craniofacial malformations

POLR1B, POLR1C, POLR1D, TCOF1.
ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1.
ALPL, ALX4, ANKRD11, CBL, CD96, COLEC10, COLEC11, CTSK, CYP26B1, EFNB1, ERF, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FLNA, FREM1, FUZ, GLI3, HUWEI, IFT122, IFT43, IFT52, IL11RA, KAT6A, LTBP1, LRP5, MASP1, MEGF8, MSX2, P4HB, POR, PPP3CA, RAB23, RECQL4, RSPRY1, RUNX2, SKI, SMAD6, SMO, SOX9, TCF12, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1, ZNF462.
AKT1, AKT3, ASPA, BRWD3, CHD8, DHCR24,DNMT3A, EXT2, EZH2, GFAP, GPC3, HERC1, HEPACAM, HUWE1, KIF7, MED12, MITF, MLC1, MTOR, NFIB, NFIX, NONO, NSD1, OFD1, PAK1, PIGA, PIGN, PIK3CA, PIK3R2, PTEN, RAB39B, RIN2, RNF135, SYN1, TBC1D7, TRIO.
AKT1, AKT3, APC2, ASPA, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DICER1, DIS3L2, DNMT3A, EED, EZH2, FGFR3, GLI3, GPC3, GPC4, GRIA3, HEPACAM, HERC1, HRAS, HUWE1, IGF2, KIF7, L1CAM, MED12, MLC1, MPDZ, MTOR, NFIX, NSD1, PDGFRB, PHF6, PIK3CA, PIK3R2, PTCH1, PTEN, RNF125, RNF135, SETD2, SUFU, SUZ12, TGFB3, TSC1, TSC2, UPF3B.
Region 11p15.5 (HG19, IGF2, CDKN1C, KCNQ1).
ACTB, ACTG1, ALG12, ALG3, ANKLE2, AMPD2, ASNS, ASPM, ATR, ATRX, ASXL1, C2CD3, CASC5, CASK, CKAP2L, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPF, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CIT, CKAP2L, CLP1, COPB2, CREBBP, CTNNB1, DIAPH1, DNM1L, DNMT3A, DONSON, DPM1, DPP6, DYNC1H1, DYRK1A, EFTUD2, EIF2S3, ERCC4, ERCC6, EXOSC3, FANCA, IER3IP1, KIF11, KIF14, KIF1BP, KIF2A, KIF5C, KNL1, LIG4, LMNB1, MBD5, MCPH1, MED17, MEIS2, METTL5, MFSD2A, MYCN, NCAPD3, NBN, NDE1, NHEJ1, NIN, NIPBL, ORC1, ORC4, ORC6, PAFAH1B1, PCNT, PCDH12, PHC1, PHGDH, PLK4, PNKP, POMT1, PQBP1, PSAT1, RAD21, RARS2, RBBP8, RNU4ATAC, RTTN, SASS6, SEPSECS, SLC25A19, SLC9A6, STAMBP, STIL, TAF13, TRAPPC10, TRAPPC14, TRMT10A, TSEN2, TSEN34, TSEN54, TUBB2B, TUBG1, TUBGCP4, TUBGCP6, VPS53, VRK1, WDR62,WDR73, XRCC4, ZEB2, ZNF335.

Congenital disorders of brain morphogenesis

AGTPBP1, AMPD2, ATD3A, CASK, CHMP1A, CLP1, COASY, EXOSC1, EXOSC3, EXOSC8, EXOSC9, MINPP1, PCLO, PPIL1, PRDM13, RARS2, SEPSECS, SLC25A46, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, VPS51, VPS53, VRK1.
ACTB, ACTG1, ADGRG1, APC2, ARX, B3GALNT2, B4GAT1, CDK5, CEP85L, COL4A1, COL6A1, COL6A2, COL6A3, CRADD, CRPPA, DCX, DYNC1H1, EOMES, FKRP, FKTN, FLNA, KATNB1, KIF2A, KIF5C, GMPPB, KATNB1, LAMA2, LAMB1, LARGE1, LMNA, MACF1, NDE1, PAFAH1B1, PHGDH, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RAB18, RAB3GAP1, RAB3GAP2, RELN, RXYLT1, SELENON, TBC1D20, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE.
ADGRG1, AKT3, CCND2, FIG4, OCLN, PI4KA, PIK3R2, PTEN, RTTN, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3.
AKT3, CCDC88C, CCND2, L1CAM, MPDZ, PIK3R2, TRIM71, ZIC2, ZIC3.
CDON, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, NODAL, PLCH1, PTCH1, SHH, SIX3, STAG2, STIL, SUFU, TDGF1, TGIF1, ZIC2.
AKT3, CCND2, HEPACAM, MLC1, PIK3CA, PIK3R2, STRADA, TBC1D7.

Connective Tissue Disorders

ABCC6, ABL1, ACTA2, ACVR1, ADA2, ADAMTS2, ADAMTSL4, ADAR, AEBP1, AKT1, ALDH18A1, ARF1, ARFGEF2, ASXL3, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BCR, BGN, BRAF, C12orf57, C1R, C1S, CAVIN1, CBS, CC2D2A, CHD7, CHRNG, CHST14, CHST3, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B, CRB2, CYP11B1, CYP17A1, DNMT3A, DSE, EFEMP2, ELN, ENG, ENPP1, EPHB4, ERMARD, EXT1, EXT2, FARSB, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FMR1, FOXE3, GAA, GABRD, GANAB, GATA5, GGCX, GMPPB, HGD, HLA-B, HPGD, HRAS, IFIH1, IL12B, KANSL1, KCNH1, KCNJ8, LETM1, LMNA, LOX, LRP5, LTBP4, MARS2, MAT2A, MED12, MFAP5, MKS1, MMADHC, MNX1, MSTN, MTHFR, MTR, MTRR, MYH11, MYH3, MYLK, MYPN, NDE1, NEDD4L, NKX2-5, NOD2, NOTCH1, NPPA, NSD2, NSMCE2, OFD1, PAM16, PBX1, PCNT, PEX12, PIEZO2, PIGN, PIGY, PISD, PKD1, PKP2, PLOD1, PLOD3, POR, PPP1CB, PRDM16, PRDM5, PRKAR1A, PRKCSH, PRKG1, PTEN, PTPN11, PTPN22, RAF1, RERE, RET, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, ROBO4, RPGRIP1L, RYR2, SALL4, SAMHD1, SEC61A1, SEC63, SEMA3E, SKI, SLC25A24, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMS, SOX10, STAT1, STAT3, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TMTC3, TNXB, TPM2, TPM3, TREX1, TSC1, TSC2, UBR1, UPF3B, WDR19, ZDHHC9, ZMPSTE24, ZNF469.
FBN1, TGFBR1, TGFBR2
ACTA2, BGN, CBS, COL11A1, COL11A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ELN, FBN1, FBN2, FOXE3, HNRNPK, LOX, MAT2A, MFAP5, MYH11, MYLK, PLOD1, PRKG1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR1, TGFBR2
ADAMTS2, ADAMTSL2 ,AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469

Other polymalformative syndromes

BRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3.

CHARACTERISTICS

Delivery time: 35-45 days 

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

Inborn errors of the metabolism are a group of rare diseases caused by genetic defects that involve failure of the metabolic pathways. An increasing number of these syndromes can be treated if they are diagnosed at an early stage. We provide the study of 76 genes associated with the diseases included in the neonatal screening program recommended by the AEP, AAP and ACMG.

ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB ACADVL, ACAT1, ACOX1, ADA, AHCY, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CFTR, CPT1A, CPT2, CYP21A2, DBT, ETFA, ETFB, ETFDH, FAH, G6PC1, GAA, GALC, GALE, GALK1, GALT, GCH1, GCDH, GLA, GLDC, GNMT, GYS2, HADHA, HADHB, HBB, HCFC1, HLCS, HMGCL, HPD HSD17B10, IDUA, IVD, MAT1A, LMBRD1, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MTHFR, MTRR, NAGS, OTC, PAH, PCBD1, PCCA, PCCB, PTS, QDPR, SLC2A1, SLC22A5, SLC25A13, SLC25A20, TAT
ABCA1, ABCB4, ABCD1, ABCD4, ABCG5, ABCG8, ABCG8, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, AGA, AGL, AGPS, AGXT, AHCY, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CFTR, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CPT2, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DDOST, DHCR7,DMP1, DOLK, DPAGT1, DPM3, DPYD, ENO3, ENPP1, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FECH, FGF23,FLAD1, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCH1, GCDH, GHR, GK, GLA, GLB1, GLDC, GM2A, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GRHPR, GUSB, GYG1, GYS1, GYS2, HADHA, HADHB, HBB, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HGSNAT, HLCS, HMBS, HMGCL, HOGA1, HPD, HPRT1, HSD17B10,HSD3B2, HYAL1, IDS, IDUA, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LIPI, LMBRD1, LPA, LPL, MAGT1, MGAT2, MAT1A, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MPI, MTHFR, MTRR, NAGA, NAGLU, NAGS, NEU1, NGLY1, NPC1, NPC2, OTC, PAH, PCBD1, PCCA, PCCB, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, PMM2, POR, PPOX, PPT1, PRKAG2, PSAP, PTS, PYGL, PYGM, QDPR, RBCK1, RFKM, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC25A36, SLC2A1, SLC2A2, SLC37A4, SLC3A1, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SRD5A3, SUMF1, TAT, TFR2, TPP1, TUSC3, UGT1A1, UMPS, UROD, UROS

CHARACTERISTICS

DESCRIPTION

Congenital heart diseases are a group of diseases characterised by the presence of structural alterations of the heart caused by defects in its formation during the embryonic period. The vast majority of congenital heart diseases have a multifactorial aetiology, although it is estimated that 8-10% of the cases are due to a chromosomal anomaly, and 3-5% are associated with a monogenic syndrome. We include the study of 130 genes associated with syndromic and non-syndromic congenital heart disease. 

A2ML1, ABCC9, ACTA1, ACTC1, ACVR2B, ACVRL1, ANK2, ANKRD1, BMPR2, BRAF, CBL, CFC1, CFL2, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CREBBP, CRELD1, CHD7, DTNA, EFEMP2, EHMT1, ELN, ENG, EP300, EVC, EYA4, FBN1, FBN2, FLNA, FLT4, GAA, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, HACD1, HAND2, HRAS, ITGA7, JAG1, KANSL1, KCNA5, KCNE1, KCNE2, KCNJ2, KCNQ1, KCNJ8, KCNK3, KDM6A, KLHL40, KLHL41, KMT2D, KRAS, LDB3, LEFTY2, LMNA, LOX, LZTR1 ,MAP2K1, MAP2K2, MAP3K20, MCTP2, MED12, MED13L, MFAP5, MIB1, MIB2, MRAS, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYLK, NEB, NEXN, NF1, NKX2-5, NKX2-6, NOTCH1, NRAS, PKP2, PLEKHM2, PRDM16, PTPN11, RAF1, RASA1, RIT1, RRAS, RRAS2, SCN5A, SELENON, SHOC2, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SOS1, SOS2, SPRED1, TAB2, TBX1, TBX20, TBX4, TBX5, TGFB2, TGFB3, TGFBR1, TGFBR2, TNNC1, TNNI3, TNNI3K, TNNT1, TNNT2, TPM1, TPM2, TPM3, TTN, UPF3B, ZFPM2, ZIC3.

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

The term dysmorphology refers to a part of medical genetics that deals with the study of human malformations or congenital defects, which may have a genetic or environmental origin, accompanied or not by intellectual or psychomotor developmental delay. 

Bone malformations

ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DSPP, FAM46A, FGFR3, FKBP10, GORAB, IFITM5, KDELR2, LRP5, MBTPS2, MESD, NOTCH2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC26A2, SOX9, SP7, SPARC, TENT5A, TMEM38B, WNT1.
ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, AIFM1, ALPL, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARSB, ARSE, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, CA2, CANT1, CASR, CC2D2A, CCDC8, CCN6, CDC45, CDH3, CDKN1C, CDT1, CEP120, CEP290, CFAP410, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRTAP, CSPP1, CSTA, CTSK, CUL7, CYP27B1, DDR2, DHCR24, DHCR7, DHODH, DLL3, DLL4, DLX3, DLX5, DMP1, DOCK6, DVL1, DVL3, DYM, DYNC2H1, EBP, EED, EFTUD2, EIF2AK3, ENAM, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM83H, FBLN1, FBN1, FBN2, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FUCA1, FZD2, GALNS, GALNT3, GDF3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, GZF1, HDAC8, HES7, HESX1, HGSNAT, HOXA13, HOXD13, HPGD, HS2ST1, HSPG2, ICK, IDH1, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IKBKG, IL1RN, IMPAD1, INPPL1, KAT6B, KIAA0753, KIF22, KIF7, KMT2A, KMT2D, LARP7, LBR, LEMD3, LEPRE1, LFNG, LHX4, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP3, MAFB, MAN2B1, MAP2K1, MAP2K2, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MNX1, , MSX2, MTX2, MTAP, MYCN, NAGLU, NANS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRAS, NSD1, NSD2, NSDHL, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCNT, PCYT1A, PDE3A, PDE4D, PEX14, PEX19, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGV, PIK3C2A, PITX1, PKDCC, PITX2, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRKG2, PRMT7, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAD21, RAF1, RASGRP2, RBM8A, RBPJ, RECQL4, RIT1, RMRP, ROR2, RPGRIP1L, RPL13, RUNX2, SALL1, SALL4, SBDS, SCUBE3, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHOC2, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOS1, SOST, SOX9, SP7, SPARC, SRCAP, SUMF1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCIRG1, TCOF1, TCTEX1D2, TCTN3, TGDS, TGFB1, TGFB2, TGFB3, TGFBR2, TMEM165, TMEM216, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, UFSP2, WBP11, WDR19, WDR34, WDR35, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, ZMPSTE24.
DVL1, DVL3, NXN, ROR2, WNT5A.
COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, RNU4ATAC, SLC26A2, UFSP2.
COL10A1, DNAJC21, EFL1, MMP13, MMP9, PTH1R, RMRP, RUNX2, SBDS, SRP54.
ACAN, ACP5, B3GALT6, BGN, CANT1, CHST3, CFAP410, COL11A2, COL2A1, DDR2, EIF2AK3, FN1, GPX4, KIF22, LBR, MATN3, MBTPS1, MMP13, NKX3-2, PAPSS2, PCYT1A, PLCB3, PRKG2, RPL13, SGMS2, SLC39A13, SMARCAL1, TRAPPC2, TRIP11, TRPV4, UFSP2.
AGPS, ARSL, ARSE, EBP, GNPAT, LBR, MGP, NSDHL, PEX14, PEX19,PEX5, PEX7.
ABCC9, KCNJ8.

Craniofacial malformations

POLR1B, POLR1C, POLR1D, TCOF1.
ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1.
ALPL, ALX4, ANKRD11, CBL, CD96, COLEC10, COLEC11, CTSK, CYP26B1, EFNB1, ERF, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FLNA, FREM1, FUZ, GLI3, HUWEI, IFT122, IFT43, IFT52, IL11RA, KAT6A, LTBP1, LRP5, MASP1, MEGF8, MSX2, P4HB, POR, PPP3CA, RAB23, RECQL4, RSPRY1, RUNX2, SKI, SMAD6, SMO, SOX9, TCF12, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1, ZNF462.
AKT1, AKT3, ASPA, BRWD3, CHD8, DHCR24,DNMT3A, EXT2, EZH2, GFAP, GPC3, HERC1, HEPACAM, HUWE1, KIF7, MED12, MITF, MLC1, MTOR, NFIB, NFIX, NONO, NSD1, OFD1, PAK1, PIGA, PIGN, PIK3CA, PIK3R2, PTEN, RAB39B, RIN2, RNF135, SYN1, TBC1D7, TRIO.
AKT1, AKT3, APC2, ASPA, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DICER1, DIS3L2, DNMT3A, EED, EZH2, FGFR3, GLI3, GPC3, GPC4, GRIA3, HEPACAM, HERC1, HRAS, HUWE1, IGF2, KIF7, L1CAM, MED12, MLC1, MPDZ, MTOR, NFIX, NSD1, PDGFRB, PHF6, PIK3CA, PIK3R2, PTCH1, PTEN, RNF125, RNF135, SETD2, SUFU, SUZ12, TGFB3, TSC1, TSC2, UPF3B.
Region 11p15.5 (HG19, IGF2, CDKN1C, KCNQ1).
ACTB, ACTG1, ALG12, ALG3, ANKLE2, AMPD2, ASNS, ASPM, ATR, ATRX, ASXL1, C2CD3, CASC5, CASK, CKAP2L, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPF, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CIT, CKAP2L, CLP1, COPB2, CREBBP, CTNNB1, DIAPH1, DNM1L, DNMT3A, DONSON, DPM1, DPP6, DYNC1H1, DYRK1A, EFTUD2, EIF2S3, ERCC4, ERCC6, EXOSC3, FANCA, IER3IP1, KIF11, KIF14, KIF1BP, KIF2A, KIF5C, KNL1, LIG4, LMNB1, MBD5, MCPH1, MED17, MEIS2, METTL5, MFSD2A, MYCN, NCAPD3, NBN, NDE1, NHEJ1, NIN, NIPBL, ORC1, ORC4, ORC6, PAFAH1B1, PCNT, PCDH12, PHC1, PHGDH, PLK4, PNKP, POMT1, PQBP1, PSAT1, RAD21, RARS2, RBBP8, RNU4ATAC, RTTN, SASS6, SEPSECS, SLC25A19, SLC9A6, STAMBP, STIL, TAF13, TRAPPC10, TRAPPC14, TRMT10A, TSEN2, TSEN34, TSEN54, TUBB2B, TUBG1, TUBGCP4, TUBGCP6, VPS53, VRK1, WDR62,WDR73, XRCC4, ZEB2, ZNF335.

Congenital disorders of brain morphogenesis

AGTPBP1, AMPD2, ATD3A, CASK, CHMP1A, CLP1, COASY, EXOSC1, EXOSC3, EXOSC8, EXOSC9, MINPP1, PCLO, PPIL1, PRDM13, RARS2, SEPSECS, SLC25A46, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, VPS51, VPS53, VRK1.
ACTB, ACTG1, ADGRG1, APC2, ARX, B3GALNT2, B4GAT1, CDK5, CEP85L, COL4A1, COL6A1, COL6A2, COL6A3, CRADD, CRPPA, DCX, DYNC1H1, EOMES, FKRP, FKTN, FLNA, KATNB1, KIF2A, KIF5C, GMPPB, KATNB1, LAMA2, LAMB1, LARGE1, LMNA, MACF1, NDE1, PAFAH1B1, PHGDH, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RAB18, RAB3GAP1, RAB3GAP2, RELN, RXYLT1, SELENON, TBC1D20, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE.
ADGRG1, AKT3, CCND2, FIG4, OCLN, PI4KA, PIK3R2, PTEN, RTTN, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3.
AKT3, CCDC88C, CCND2, L1CAM, MPDZ, PIK3R2, TRIM71, ZIC2, ZIC3.
CDON, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, NODAL, PLCH1, PTCH1, SHH, SIX3, STAG2, STIL, SUFU, TDGF1, TGIF1, ZIC2.
AKT3, CCND2, HEPACAM, MLC1, PIK3CA, PIK3R2, STRADA, TBC1D7.

Connective Tissue Disorders

ABCC6, ABL1, ACTA2, ACVR1, ADA2, ADAMTS2, ADAMTSL4, ADAR, AEBP1, AKT1, ALDH18A1, ARF1, ARFGEF2, ASXL3, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BCR, BGN, BRAF, C12orf57, C1R, C1S, CAVIN1, CBS, CC2D2A, CHD7, CHRNG, CHST14, CHST3, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B, CRB2, CYP11B1, CYP17A1, DNMT3A, DSE, EFEMP2, ELN, ENG, ENPP1, EPHB4, ERMARD, EXT1, EXT2, FARSB, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FMR1, FOXE3, GAA, GABRD, GANAB, GATA5, GGCX, GMPPB, HGD, HLA-B, HPGD, HRAS, IFIH1, IL12B, KANSL1, KCNH1, KCNJ8, LETM1, LMNA, LOX, LRP5, LTBP4, MARS2, MAT2A, MED12, MFAP5, MKS1, MMADHC, MNX1, MSTN, MTHFR, MTR, MTRR, MYH11, MYH3, MYLK, MYPN, NDE1, NEDD4L, NKX2-5, NOD2, NOTCH1, NPPA, NSD2, NSMCE2, OFD1, PAM16, PBX1, PCNT, PEX12, PIEZO2, PIGN, PIGY, PISD, PKD1, PKP2, PLOD1, PLOD3, POR, PPP1CB, PRDM16, PRDM5, PRKAR1A, PRKCSH, PRKG1, PTEN, PTPN11, PTPN22, RAF1, RERE, RET, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, ROBO4, RPGRIP1L, RYR2, SALL4, SAMHD1, SEC61A1, SEC63, SEMA3E, SKI, SLC25A24, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMS, SOX10, STAT1, STAT3, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TMTC3, TNXB, TPM2, TPM3, TREX1, TSC1, TSC2, UBR1, UPF3B, WDR19, ZDHHC9, ZMPSTE24, ZNF469.
FBN1, TGFBR1, TGFBR2
ACTA2, BGN, CBS, COL11A1, COL11A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ELN, FBN1, FBN2, FOXE3, HNRNPK, LOX, MAT2A, MFAP5, MYH11, MYLK, PLOD1, PRKG1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR1, TGFBR2
ADAMTS2, ADAMTSL2 ,AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469

Other polymalformative syndromes

BRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3.

CHARACTERISTICS

Delivery time: 35-45 days 

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.

Mobile private area

Genome Lab

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