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
Pancreatic axis
Adipose tissue
Thyroid axis
Parathyroid axis
Adrenal axis
Hypothalamic-pituitary axis
Endocrine tumors
Documentation
Application form

Pancreatic axis I: 4 studies

This group encompasses a series of genetic studies focused on diseases that affect pancreatic function and glucose metabolism. Among these, diabetes stands out as a chronic and irreversible disease characterized by elevated blood glucose levels, due to reduced insulin secretion or impaired insulin action. We offer a targeted exome analysis that examines genes associated with monogenic diabetes, including various subtypes such as neonatal diabetes, syndromic neonatal diabetes, and MODY diabetes, with a specific test for the latter. Additionally, we offer tests targeting genes related to hyperinsulinemia, as well as genes implicated in pancreatitis and pancreatic insufficiency, thereby providing a comprehensive genetic evaluation.
ABCC8, AKT2, APPL1, AQP2, AVP, AVPR2, BLK, BSCL2, CEL, CISD2, CNOT1, DCAF17, DNAJC3, DUT, DYRK1B, EIF2AK3, EIF2B1, EIF2S3, FICD, FOXP3, GATA4, GATA6, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, KCNJ11, KLF11, LMNA, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, ONECUT1, PAX4, PAX6, PCBD1, PDIA6, PDX1, PIK3R1, PLAGL1, PLIN1, POLD1, PPARG, PPP1R15B, PTF1A, RFX6, SLC16A1, SLC19A2, SLC29A3, SLC2A2, SMPD4, STAT3, TNFSF15, TRMT10A, UCP2, WFS1, YIPF5, ZBTB20, ZFP57, ZMPSTE24, ZNF808.
ABCC8, APPL1, BLK, CEL, GATA6, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, RFX6, WFS1.
ABCC8, AKT2, CACNA1C, CACNA1D, FOXA2, GCK, GLUD1, GPC3, HADH, HK1, HNF1A, HNF4A, INSR, KCNJ11, KDM6A, KMT2D, MAGEL2, NSD1, PMM2, SLC16A1, SLC25A36, UCP2.
ABCB4, AGPAT2, APC, APOA5, APOC2, BCKDHA, BCKDHB, BSCL2, CASR, CBS, CDKN2A, CEL, CELA3B, CFTR, CLDN2, COX4I2, CPA1, CTRC, DBT, DLD, DNAJC21, EFL1, G6PC1, GPIHBP1, KRT8, LMF1, LMNA, LPL, MEN1, MMUT, PALB2, PCCA, PCCB, PNLIP, PRSS1, PRSS2, RFX6, SBDS, SLC37A4, SMAD4, SPINK1, SRP54, TRPV6, UBR1, XPNPEP3.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Adipose tissue I: 2 studies

Adipose tissue is a key endocrine organ in the regulation of energy metabolism and insulin sensitivity; therefore, abnormalities in this tissue can manifest as disorders of body composition and be associated with insulin resistance, dyslipidemia, and early metabolic complications. We offer targeted genetic testing for adipose tissue abnormalities, aimed at diagnosing congenital and familial lipodystrophies, as well as monogenic or syndromic obesity, particularly in cases of early onset or with a family history.
ADRA2A, AGPAT2, AKT2, ALDH18A1, ALMS1, BANF1, BLM, BSCL2, BUD13, CAV1, CAVIN1, CIDEC, EPHX1, ERCC6, ERCC8, FBN1, FOS, INSR, KCNJ6, LIPE, LMNA, LMNB2, MFN2, MTX2, NOTCH3, NSMCE2, OPA3, OTULIN, PCNT, PCYT1A, PDGFRB, PIK3R1, PLAAT3, PLIN1, POC1A, POC5, POLD1, POLR3A, PPARG, PRIM1, PSMA3, PSMB4, PSMB8, SLC25A24, SPRTN, SUPT7L, WRN, ZMPSTE24.
ADCY3, ADRB3, AFF4, AGRP, ALMS1, ANOS1, ARL6, ASIP, ATRX, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, BRD4, CARTPT, CCDC28B, CDH23, CELA2A, CEP164, CEP19, CEP290, CFAP418, CPE, CREBBP, CUL4B, DEAF1, DLK1, DYRK1B, EHMT1, EIF2S3, ENPP1, EP300, FBN3, FFAR4, FGF8, FGFR1, FLII, FTO, GHRL, GNAS, GNB1, HDAC8, IFT172, IFT27, IFT74, INPP5E, INSIG2, IQSEC2, KIDINS220, KSR2, LAS1L, LDLR, LDLRAP1, LEP, LEPR, LIPA, LZTFL1, MAGEL2, MC3R, MC4R, MEGF8, MKKS, MKRN3, MKS1, MRAP2, MYT1L, NDN, NIPBL, NPAP1, NPHP1, NPY, NR0B2, NTRK2, OCA2, PAX6, PCNT, PCSK1, PCSK9, PGM2L1, PHF6, PHIP, POMC, POU3F4, PPARG, PRMT7, PROK2, PROKR2, RAB23, RAD21, RAI1, RPS6KA3, RTL1, SCAPER, SCLT1, SDC3, SDCCAG8, SH2B1, SIM1, SMC1A, SMC3, SNRPN, STX16, TMEM67, TRAPPC9, TRIM32, TRPC5, TTC8, TUB, UCP2, UCP3, VPS13B, WDPCP, WT1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Thyroid Axis I: 2 studies

Thyroid disorders occur when the thyroid gland does not function properly, either because it is producing too much T4 hormone or because it is not producing enough. We offer two targeted exome tests that analyze the genes associated with the two main types of thyroid disorders (hypothyroidism and hyperthyroidism) as well as other related conditions.
TSHR.
CDCA8, DMXL2, DUOX2, DUOXA2, FOXE1, FOXI1, GLIS3, GNAS, HESX1, IGSF1, IRS4, IYD, KAT6B, KCNJ10, KMT2D, LHX3, LHX4, NKX2-1, NKX2-5, OTX2, PAX8, POU1F1, PRKAR1A, PROP1, PTRH2, SECISBP2, SLC16A2, SLC26A4, SLC26A7, SLC5A5, TBL1X, TG, THRA, THRB, TPO, TRH, TRHR, TSHB, TSHR, TUBB1, UBR1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Parathyroid axis I: 1 study

We include a targeted exome analysis focused on alterations in the parathyroid glands, which are essential for regulating calcium and phosphorus metabolism. We analyze the genes associated with both hyperparathyroidism and hypoparathyroidism, conditions characterized by an excess or deficiency of parathyroid hormone.
AIRE, AP2S1, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, CYP24A1, CYP27B1, GATA3, GCM2, GNA11, MEN1, PTH, PTH1R, RET, SLC34A1, SLC34A3, SOX3, STX16, TBCE, TBX1, TRPV6, VDR.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Adrenal axis I 1 study

Adrenal disorders are caused by improper functioning of the adrenal glands, leading to abnormal production of steroid hormones. Our study examines the genes associated with congenital adrenal hyperplasia.
ARMC5, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, HSD3B2, PDE11A, PDE8B, POR, PRKAR1A, STAR.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Hypothalamic-Pituitary-Gonadal Axis and Sexual Development I: 3 Studies

This group brings together genetic studies focused on the hypothalamic-pituitary-gonadal axis, which is essential for the regulation of reproductive function and sexual development. We offer three targeted exome tests for the diagnosis of diabetes insipidus, hypogonadotropic hypogonadism (including Kallmann syndrome), and disorders of sexual development and puberty.
AQP2, AVP, AVPR2, WFS1.
AMH, AMHR2, ANOS1, AR, ARX, ATRX, AXL, BCOR, CCDC141, CDK9, CDKN1C, CEP41, CHD4, CHD7, CPE, CREBBP, CTU2, CUL4B, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DCC, DHCR7, DHH, DHX37, DUSP6, DYNC2H1, ERCC3, ESR2, FEZF1, FGF17, FGF8, FGFR1, FGFR2, FIG4, FLRT3, FRAS1, FSHB, GATA4, GNRH1, GNRHR, HESX1, HHAT, HOXA13, HS6ST1, HSD17B3, HSD3B2, IL17RD, IRF6, KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, MAMLD1, MAP3K1, MKRN3, MKS1, MYRF, NDNF, NHLH2, NR0B1, NR2F2, NR3C1, NR5A1, NSMF, PAX8, PBX1, POLR1C, POLR3A, POLR3B, POR, PPP1R12A, PRDM13, PROK2, PROKR2, PROP1, RNF216, RPL10, RSPO1, SAMD9, SEMA3A, SEMA3E, SGPL1, SMCHD1, SOX10, SOX11, SOX2, SOX9, SPRY4, SRA1, SRD5A2, SRY, STAR, TAC3, TACR3, TCF12, TOE1, TSPYL1, WDR11, WT1, ZFPM2.
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

Hereditary predisposition to endocrine tumors I: 1 study

Endocrine tumors originate in cells that produce and release hormones regulated by signals from the nervous system or the body itself. In this targeted exome analysis, we examine genes associated with a predisposition to multiple endocrine neoplasia, medullary and non-medullary thyroid cancer, and hereditary pheochromocytoma-paraganglioma, among others.
AIP, APC, CDH23, CDKN1A, CDKN1B, CDKN2B, CDKN2C, DICER1, DLST, DNMT3A, EPAS1, ESR2, FH, FOXE1, GPR101, HABP2, KIF1B, MAX, MDH2, MEN1, MINPP1, MSH2, NF1, NKX2-1, NTRK1, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLC5A5, SRGAP1, TMEM127, VHL, WRN.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days