Logo-Dreamgenics
Logo-Dreamgenics

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.
Clinical areas
Diabetes
Obesity
Thyroid
Adrenal Hyperplasia
Hypogonadism
Broader studies
DG Exome®
DG Clinical Exome®
Documentation
Application form
Informed consent
Accepted samples
  • EDTA blood (1x 5 ml)
  • Saliva (specific Isohelix kit)
  • Buccal exudate (2x sterile isopes)
  • gDNA (>30 ng/μl in >100 μl TE buffer)

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

Diabetes

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.

Studies included
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.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Obesity

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.

Studies included
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.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Thyroid

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.

Studies included
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.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Adrenal Hyperplasia

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.  

Studies included
CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, PRKAR1A, STAR.
CDH23, USP8.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Hypogonadism

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.

Studies included
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.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days