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Endocrinology

  • Endocrinology

A large number of endocrine system diseases have a genetic basis, so that a genetic study allows a differential diagnosis to be made and the correct diagnosis to be obtained in the patient, which is essential for choosing the most appropriate treatment and significantly improving the prognosis.

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.

Cardiology
Oncology
Neurology
Endocrinology
Hematology
Pediatrics
Metabolopathies
ENT
Ophthalmology

DESCRIPTION

Diabetes mellitus is a chronic and irreversible disease of the metabolism in which there is an excess of glucose in the blood due to a decrease in the secretion of the hormone insulin or a deficiency of its action. It is a complex disease, determined by multiple genetic and environmental factors, with multiple genes involved in the pathogenesis of the disease. The general panel, where we analyse more than 190 associated genes, is recommended for patients with alterations in glucose metabolism.

ABCA1, ABCB4, ABCC8, ACAT1, ACSF3, AFF4, AGL, AGPAT2, AKT2, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, APC, APOA1, APOA5, APOC2, APPL1, AQP2, ARL6, AVP, AVPR2, B4GALT1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLK, BSCL2, C8orf37, CASR, CAV1, CAVIN1, CCDC28B, CDKN2A, CEL, CEP164, CEP290, CFTR, CIDEC, CISD2, COG1, COG4, COG5, COG6, COG7, COG8, COX4I2, CP, CPA1, CTRC, DCAF17, DDOST, DNAJC21, DNAJC3, DOLK, DPM1, DPM2, DPM3, DYRK1B, EFL1, EIF2AK3, ENO3, FBP1, FOS, FOXP3, G6PC1, GAA, GATA6, GBE1, GCK, GHR, GLIS3, GLUD1, GMPPA, GNE, GPIHBP1, GYG1, GYS1, GYS2, HADH, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HYMAI, IER3IP1, IFT172, IFT27, IFT74, INS, INSR, INVS, IQCB1, KCNJ11, KCNJ6, KLF11, LMNA, LAMP2, LDHA, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPE, LPL, LRP6, LZTFL1, MAN1B1, MC4R, MEF2A, MEN1, MGAT2, MKKS, MKS1, MOGS, MPDU1, MPI, MTTP, MTX2, NEUROD1, NEUROG3, NPHP1, NPHP3, NPHP4, NSMCE2, OXCT1, PALB2, PAX4, PC, PCK1, PCSK1, PCSK9, PDX1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PIK3R1, PLAGL1, PLIN1, PMM2, POMC, POLD1, POLR3A, PPARG, PPP1R3A, PPP1R15B, PRKAG2, PRSS1, PRSS2, PSMB8, PTF1A, PYGL, PYGM, RBCK1, RFT1, RFX6, SCAPER, SBDS, SDCCAG8, SLC16A1, SLC19A2, SLC2A2, SLC35A2, SMAD4, SPINK1, SRD5A3, SRP54, STAT3, TCF2, TRIM32, TRMT10A, TTC8, UCP2, UCP3,WDPCP, WDR19, WFS1, XRCC4, YIPF5, ZFP57, ZMPSTE24.
AVP, AQP2, AVPR2.
ABCC8, GCK, HYMAI, INS, KCNJ11, PDX1, PLAGL1, PTF1A, STAT3, ZFP57.
EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, HNF1B, IER3IP1, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX6, PTF1A, RFX6, SLC19A2, WFS1.
AQP2, ARL6, AVPR2, BBS1, CCDC28B, VIPAS39, VPS33B.
ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2.
ABCC8, APPL1, BLK, CEL, GCK, GLIS3, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, TCF2.
ABCB4, APC, APOA5, APOC2, CASR, CDKN2A, CFTR, COX4I2, CPA1, CTRC, DNAJC21, EFL1, GPIHBP1, LPL, MEN1, PALB2, RFX6, PRSS1, PRSS2, SBDS, SMAD4, SPINK1, SRP54.
AGPAT2, AKT2, BANF1, BSCL2, CAV1, CAVIN1, CIDEC, FOS, KCNJ6, LIPE, LMNA, MTX2, PIK3R1, PLIN1, POLD1, POLR3A, PPARG, PSMB8, ZMPSTE24.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Obesity is defined as an abnormal or excessive accumulation of fat that can be detrimental to health. Although obesity is due to changes in lifestyle habits, the genetic origin of obesity is a known and proven fact. We studied 74 genes related to obesity as well as non-syndromic obesity.

AFF4, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, C8ORF37, CEP19, CEP290, CREBBP, CUL4B, DEAF1, DLK1, EIF2S3, EP300, FLII, FMR1, GNAS, HDAC8, IFT172, IFT27, IFT74, INPP5E, IQSEC2, LAS1L, LDLR, LDLRAP1, LEP, LEPR, LIPA, LZTFL1, MAGEL2, MC4R, MEG3, MEGF8, MKKS, MKS1, NDN, NPHP1, NR0B2, OCA2, PAX6, PCNT, PCSK1, PCSK9, PHF6, PHIP, POMC, POU3F4, PRMT7, RAB23, RAI1, RPS6KA3, RTL1, SCAPER, SDCCAG8, SH2B1, SIM1, SNORD115-1, SNORD116-1, SNRPN, TRAPPC9, TRIM32, TTC8, VPS13B, WDPCP, WT1.
CEP19, LEP, LEPR, MC4R, NROB2, PCSK1, POMC, SH2B1, SIM1.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Thyroid gland disease occurs when the thyroid is not functioning properly, either because it is secreting too much T4 hormone or because it is not secreting enough. We study the genes associated with the two main types of thyroid disorder (hypothyroidism and hyperthyroidism) as well as other associated pathologies.

CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, DMXL2, DUOX2, DUOXA2, FOXE1, FOXI1, GCM2, GLIS3, HESX1, IGSF1, IYD, KAT6B, KCNJ10, KMT2D, LHX3, LHX4, MEN1, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, PTRH2, RET, SLC26A4, SLC5A5, TG, TPO, TRH, TRHR, TRPV6, TSHB, TSHR, UBR1.
TSHR.
DMXL2, DUOX2, DUOXA2, FOXE1, FOXI1, GLIS3, HESX1, IGSF1, IYD, KAT6B, KCNJ10, KMT2D, LHX3, LHX4, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, PTRH2, SLC26A4, SLC5A5, TG, TPO, TRH, TRHR, TSHB, TSHR, UBR1.
CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, GCM2, MEN1, RET, TRPV6.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Adrenal diseases are due to improper functioning of the adrenal glands, leading to abnormal production of steroid hormones. Our panel includes the study of 8 genes related to congenital adrenal hyperplasia, including the CYP21A2 gene.

CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, PRKAR1A, STAR.
CDH23, USP8.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Hypogonadism refers to a situation in which the sex glands (testicles in men and ovaries in women) produce low or no hormones, or when there is an alteration of the hypothalamus or pituitary gland to produce normal levels of GnRH (gonadotropin-releasing hormone). This study includes the analysis of 98 genes associated with the pathology or related to syndromes with hypogonadism.

A2ML1, ABCD1, ANOS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BRCC3, C8ORF37, CBL, CCDC141, CEP19, CEP290, CHD7, CNBP, DCAF17, DDC, DMXL2, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FOXA2, FSHB, GLI2, GNRH1, GNRHR, HESX1, HS6ST1, IFT172, IFT27, IFT74, IL17RD, KISS1, KISS1R, KRAS, LEP, LEPR, LHX4, LMNA, LZTFL1, MAGEL2, MKKS, MKS1, MRAS, NDN, NDNF, NPHP1, NR0B1, NRAS, NSMF, OCA2, OTX2, PCSK1, PNPLA6, POLA1, POLR1C, POLR3A, POLR3B,POU1F1, PROP1, PROK2, PROKR2, PTPN11, RAB3GAP1, RAB3GAP2, RAF1, RASA2, RBM28, RIT1, RNF216, RRAS, RRAS2, SCAPER, SDCCAG8, SEMA3A, SEMA3E, SIM1, SMCHD1, SNRPN, SOS1, SOS2, SOX10, SOX3, SPRY4, TAC3, TACR3, TRIM32, TTC8, WDPCP, WDR11.

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.

Access Genome Lab
Study request
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.

Search for studies
  • Endocrinology
Cardiology
Oncology
Neurology
Endocrinology
Hematology
Pediatrics
Metabolopathies
ENT
Ophthalmology

DESCRIPTION

Diabetes mellitus is a chronic and irreversible disease of the metabolism in which there is an excess of glucose in the blood due to a decrease in the secretion of the hormone insulin or a deficiency of its action. It is a complex disease, determined by multiple genetic and environmental factors, with multiple genes involved in the pathogenesis of the disease. The general panel, where we analyse more than 190 associated genes, is recommended for patients with alterations in glucose metabolism.

ABCA1, ABCB4, ABCC8, ACAT1, ACSF3, AFF4, AGL, AGPAT2, AKT2, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, APC, APOA1, APOA5, APOC2, APPL1, AQP2, ARL6, AVP, AVPR2, B4GALT1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLK, BSCL2, C8orf37, CASR, CAV1, CAVIN1, CCDC28B, CDKN2A, CEL, CEP164, CEP290, CFTR, CIDEC, CISD2, COG1, COG4, COG5, COG6, COG7, COG8, COX4I2, CP, CPA1, CTRC, DCAF17, DDOST, DNAJC21, DNAJC3, DOLK, DPM1, DPM2, DPM3, DYRK1B, EFL1, EIF2AK3, ENO3, FBP1, FOS, FOXP3, G6PC1, GAA, GATA6, GBE1, GCK, GHR, GLIS3, GLUD1, GMPPA, GNE, GPIHBP1, GYG1, GYS1, GYS2, HADH, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HYMAI, IER3IP1, IFT172, IFT27, IFT74, INS, INSR, INVS, IQCB1, KCNJ11, KCNJ6, KLF11, LMNA, LAMP2, LDHA, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPE, LPL, LRP6, LZTFL1, MAN1B1, MC4R, MEF2A, MEN1, MGAT2, MKKS, MKS1, MOGS, MPDU1, MPI, MTTP, MTX2, NEUROD1, NEUROG3, NPHP1, NPHP3, NPHP4, NSMCE2, OXCT1, PALB2, PAX4, PC, PCK1, PCSK1, PCSK9, PDX1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PIK3R1, PLAGL1, PLIN1, PMM2, POMC, POLD1, POLR3A, PPARG, PPP1R3A, PPP1R15B, PRKAG2, PRSS1, PRSS2, PSMB8, PTF1A, PYGL, PYGM, RBCK1, RFT1, RFX6, SCAPER, SBDS, SDCCAG8, SLC16A1, SLC19A2, SLC2A2, SLC35A2, SMAD4, SPINK1, SRD5A3, SRP54, STAT3, TCF2, TRIM32, TRMT10A, TTC8, UCP2, UCP3,WDPCP, WDR19, WFS1, XRCC4, YIPF5, ZFP57, ZMPSTE24.
AVP, AQP2, AVPR2.
ABCC8, GCK, HYMAI, INS, KCNJ11, PDX1, PLAGL1, PTF1A, STAT3, ZFP57.
EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, HNF1B, IER3IP1, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX6, PTF1A, RFX6, SLC19A2, WFS1.
AQP2, ARL6, AVPR2, BBS1, CCDC28B, VIPAS39, VPS33B.
ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2.
ABCC8, APPL1, BLK, CEL, GCK, GLIS3, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, TCF2.
ABCB4, APC, APOA5, APOC2, CASR, CDKN2A, CFTR, COX4I2, CPA1, CTRC, DNAJC21, EFL1, GPIHBP1, LPL, MEN1, PALB2, RFX6, PRSS1, PRSS2, SBDS, SMAD4, SPINK1, SRP54.
AGPAT2, AKT2, BANF1, BSCL2, CAV1, CAVIN1, CIDEC, FOS, KCNJ6, LIPE, LMNA, MTX2, PIK3R1, PLIN1, POLD1, POLR3A, PPARG, PSMB8, ZMPSTE24.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Obesity is defined as an abnormal or excessive accumulation of fat that can be detrimental to health. Although obesity is due to changes in lifestyle habits, the genetic origin of obesity is a known and proven fact. We studied 74 genes related to obesity as well as non-syndromic obesity.

AFF4, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, C8ORF37, CEP19, CEP290, CREBBP, CUL4B, DEAF1, DLK1, EIF2S3, EP300, FLII, FMR1, GNAS, HDAC8, IFT172, IFT27, IFT74, INPP5E, IQSEC2, LAS1L, LDLR, LDLRAP1, LEP, LEPR, LIPA, LZTFL1, MAGEL2, MC4R, MEG3, MEGF8, MKKS, MKS1, NDN, NPHP1, NR0B2, OCA2, PAX6, PCNT, PCSK1, PCSK9, PHF6, PHIP, POMC, POU3F4, PRMT7, RAB23, RAI1, RPS6KA3, RTL1, SCAPER, SDCCAG8, SH2B1, SIM1, SNORD115-1, SNORD116-1, SNRPN, TRAPPC9, TRIM32, TTC8, VPS13B, WDPCP, WT1.
CEP19, LEP, LEPR, MC4R, NROB2, PCSK1, POMC, SH2B1, SIM1.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Thyroid gland disease occurs when the thyroid is not functioning properly, either because it is secreting too much T4 hormone or because it is not secreting enough. We study the genes associated with the two main types of thyroid disorder (hypothyroidism and hyperthyroidism) as well as other associated pathologies.

CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, DMXL2, DUOX2, DUOXA2, FOXE1, FOXI1, GCM2, GLIS3, HESX1, IGSF1, IYD, KAT6B, KCNJ10, KMT2D, LHX3, LHX4, MEN1, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, PTRH2, RET, SLC26A4, SLC5A5, TG, TPO, TRH, TRHR, TRPV6, TSHB, TSHR, UBR1.
TSHR.
DMXL2, DUOX2, DUOXA2, FOXE1, FOXI1, GLIS3, HESX1, IGSF1, IYD, KAT6B, KCNJ10, KMT2D, LHX3, LHX4, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, PTRH2, SLC26A4, SLC5A5, TG, TPO, TRH, TRHR, TSHB, TSHR, UBR1.
CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, GCM2, MEN1, RET, TRPV6.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Adrenal diseases are due to improper functioning of the adrenal glands, leading to abnormal production of steroid hormones. Our panel includes the study of 8 genes related to congenital adrenal hyperplasia, including the CYP21A2 gene.

CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, PRKAR1A, STAR.
CDH23, USP8.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Hypogonadism refers to a situation in which the sex glands (testicles in men and ovaries in women) produce low or no hormones, or when there is an alteration of the hypothalamus or pituitary gland to produce normal levels of GnRH (gonadotropin-releasing hormone). This study includes the analysis of 98 genes associated with the pathology or related to syndromes with hypogonadism.

A2ML1, ABCD1, ANOS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BRCC3, C8ORF37, CBL, CCDC141, CEP19, CEP290, CHD7, CNBP, DCAF17, DDC, DMXL2, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FOXA2, FSHB, GLI2, GNRH1, GNRHR, HESX1, HS6ST1, IFT172, IFT27, IFT74, IL17RD, KISS1, KISS1R, KRAS, LEP, LEPR, LHX4, LMNA, LZTFL1, MAGEL2, MKKS, MKS1, MRAS, NDN, NDNF, NPHP1, NR0B1, NRAS, NSMF, OCA2, OTX2, PCSK1, PNPLA6, POLA1, POLR1C, POLR3A, POLR3B,POU1F1, PROP1, PROK2, PROKR2, PTPN11, RAB3GAP1, RAB3GAP2, RAF1, RASA2, RBM28, RIT1, RNF216, RRAS, RRAS2, SCAPER, SDCCAG8, SEMA3A, SEMA3E, SIM1, SMCHD1, SNRPN, SOS1, SOS2, SOX10, SOX3, SPRY4, TAC3, TACR3, TRIM32, TTC8, WDPCP, WDR11.

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.

  • Endocrinology

DESCRIPTION

Diabetes mellitus is a chronic and irreversible disease of the metabolism in which there is an excess of glucose in the blood due to a decrease in the secretion of the hormone insulin or a deficiency of its action. It is a complex disease, determined by multiple genetic and environmental factors, with multiple genes involved in the pathogenesis of the disease. The general panel, where we analyse more than 190 associated genes, is recommended for patients with alterations in glucose metabolism.

ABCA1, ABCB4, ABCC8, ACAT1, ACSF3, AFF4, AGL, AGPAT2, AKT2, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, APC, APOA1, APOA5, APOC2, APPL1, AQP2, ARL6, AVP, AVPR2, B4GALT1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLK, BSCL2, C8orf37, CASR, CAV1, CAVIN1, CCDC28B, CDKN2A, CEL, CEP164, CEP290, CFTR, CIDEC, CISD2, COG1, COG4, COG5, COG6, COG7, COG8, COX4I2, CP, CPA1, CTRC, DCAF17, DDOST, DNAJC21, DNAJC3, DOLK, DPM1, DPM2, DPM3, DYRK1B, EFL1, EIF2AK3, ENO3, FBP1, FOS, FOXP3, G6PC1, GAA, GATA6, GBE1, GCK, GHR, GLIS3, GLUD1, GMPPA, GNE, GPIHBP1, GYG1, GYS1, GYS2, HADH, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HYMAI, IER3IP1, IFT172, IFT27, IFT74, INS, INSR, INVS, IQCB1, KCNJ11, KCNJ6, KLF11, LMNA, LAMP2, LDHA, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPE, LPL, LRP6, LZTFL1, MAN1B1, MC4R, MEF2A, MEN1, MGAT2, MKKS, MKS1, MOGS, MPDU1, MPI, MTTP, MTX2, NEUROD1, NEUROG3, NPHP1, NPHP3, NPHP4, NSMCE2, OXCT1, PALB2, PAX4, PC, PCK1, PCSK1, PCSK9, PDX1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PIK3R1, PLAGL1, PLIN1, PMM2, POMC, POLD1, POLR3A, PPARG, PPP1R3A, PPP1R15B, PRKAG2, PRSS1, PRSS2, PSMB8, PTF1A, PYGL, PYGM, RBCK1, RFT1, RFX6, SCAPER, SBDS, SDCCAG8, SLC16A1, SLC19A2, SLC2A2, SLC35A2, SMAD4, SPINK1, SRD5A3, SRP54, STAT3, TCF2, TRIM32, TRMT10A, TTC8, UCP2, UCP3,WDPCP, WDR19, WFS1, XRCC4, YIPF5, ZFP57, ZMPSTE24.
AVP, AQP2, AVPR2.
ABCC8, GCK, HYMAI, INS, KCNJ11, PDX1, PLAGL1, PTF1A, STAT3, ZFP57.
EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, HNF1B, IER3IP1, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX6, PTF1A, RFX6, SLC19A2, WFS1.
AQP2, ARL6, AVPR2, BBS1, CCDC28B, VIPAS39, VPS33B.
ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2.
ABCC8, APPL1, BLK, CEL, GCK, GLIS3, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, TCF2.
ABCB4, APC, APOA5, APOC2, CASR, CDKN2A, CFTR, COX4I2, CPA1, CTRC, DNAJC21, EFL1, GPIHBP1, LPL, MEN1, PALB2, RFX6, PRSS1, PRSS2, SBDS, SMAD4, SPINK1, SRP54.
AGPAT2, AKT2, BANF1, BSCL2, CAV1, CAVIN1, CIDEC, FOS, KCNJ6, LIPE, LMNA, MTX2, PIK3R1, PLIN1, POLD1, POLR3A, PPARG, PSMB8, ZMPSTE24.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Obesity is defined as an abnormal or excessive accumulation of fat that can be detrimental to health. Although obesity is due to changes in lifestyle habits, the genetic origin of obesity is a known and proven fact. We studied 74 genes related to obesity as well as non-syndromic obesity.

AFF4, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, C8ORF37, CEP19, CEP290, CREBBP, CUL4B, DEAF1, DLK1, EIF2S3, EP300, FLII, FMR1, GNAS, HDAC8, IFT172, IFT27, IFT74, INPP5E, IQSEC2, LAS1L, LDLR, LDLRAP1, LEP, LEPR, LIPA, LZTFL1, MAGEL2, MC4R, MEG3, MEGF8, MKKS, MKS1, NDN, NPHP1, NR0B2, OCA2, PAX6, PCNT, PCSK1, PCSK9, PHF6, PHIP, POMC, POU3F4, PRMT7, RAB23, RAI1, RPS6KA3, RTL1, SCAPER, SDCCAG8, SH2B1, SIM1, SNORD115-1, SNORD116-1, SNRPN, TRAPPC9, TRIM32, TTC8, VPS13B, WDPCP, WT1.
CEP19, LEP, LEPR, MC4R, NROB2, PCSK1, POMC, SH2B1, SIM1.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Thyroid gland disease occurs when the thyroid is not functioning properly, either because it is secreting too much T4 hormone or because it is not secreting enough. We study the genes associated with the two main types of thyroid disorder (hypothyroidism and hyperthyroidism) as well as other associated pathologies.

CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, DMXL2, DUOX2, DUOXA2, FOXE1, FOXI1, GCM2, GLIS3, HESX1, IGSF1, IYD, KAT6B, KCNJ10, KMT2D, LHX3, LHX4, MEN1, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, PTRH2, RET, SLC26A4, SLC5A5, TG, TPO, TRH, TRHR, TRPV6, TSHB, TSHR, UBR1.
TSHR.
DMXL2, DUOX2, DUOXA2, FOXE1, FOXI1, GLIS3, HESX1, IGSF1, IYD, KAT6B, KCNJ10, KMT2D, LHX3, LHX4, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, PTRH2, SLC26A4, SLC5A5, TG, TPO, TRH, TRHR, TSHB, TSHR, UBR1.
CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, GCM2, MEN1, RET, TRPV6.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Adrenal diseases are due to improper functioning of the adrenal glands, leading to abnormal production of steroid hormones. Our panel includes the study of 8 genes related to congenital adrenal hyperplasia, including the CYP21A2 gene.

CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, PRKAR1A, STAR.
CDH23, USP8.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Hypogonadism refers to a situation in which the sex glands (testicles in men and ovaries in women) produce low or no hormones, or when there is an alteration of the hypothalamus or pituitary gland to produce normal levels of GnRH (gonadotropin-releasing hormone). This study includes the analysis of 98 genes associated with the pathology or related to syndromes with hypogonadism.

A2ML1, ABCD1, ANOS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BRCC3, C8ORF37, CBL, CCDC141, CEP19, CEP290, CHD7, CNBP, DCAF17, DDC, DMXL2, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FOXA2, FSHB, GLI2, GNRH1, GNRHR, HESX1, HS6ST1, IFT172, IFT27, IFT74, IL17RD, KISS1, KISS1R, KRAS, LEP, LEPR, LHX4, LMNA, LZTFL1, MAGEL2, MKKS, MKS1, MRAS, NDN, NDNF, NPHP1, NR0B1, NRAS, NSMF, OCA2, OTX2, PCSK1, PNPLA6, POLA1, POLR1C, POLR3A, POLR3B,POU1F1, PROP1, PROK2, PROKR2, PTPN11, RAB3GAP1, RAB3GAP2, RAF1, RASA2, RBM28, RIT1, RNF216, RRAS, RRAS2, SCAPER, SDCCAG8, SEMA3A, SEMA3E, SIM1, SMCHD1, SNRPN, SOS1, SOS2, SOX10, SOX3, SPRY4, TAC3, TACR3, TRIM32, TTC8, WDPCP, WDR11.

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.

© 2023 Dreamgenics, S.L. All Rights Reserved.

© 2022 Dreamgenics, S.L. All Rights Reserved.

© 2022 Dreamgenics, S.L. All Rights Reserved.

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Genome Lab

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