Genomic Unity® Endocrinology Analysis

The endocrine system produces and secretes hormones that regulate many bodily functions including metabolism, growth and development and sexual function. Endocrine disorders can be caused by an overproduction of hormone, underproduction of hormone or the body’s inability to respond to the hormone. Patients often present with heterogeneous phenotypes given that one bodily function can be regulated by multiple hormones and that one hormone can regulate multiple bodily functions.

Genomic Unity® Endocrinology Analysis is an effective test for the genetic cause of a suspected endocrine disorder.

Order this test when the patient presents with a suspected endocrine disorder, and you'd like the option to reflex up to Genomic Unity® Exome Plus Analysis.

  • Sequencing analysis of endocrine associated genes
  • Del/dup analysis of endocrine associated genes

Optionally includes:

  • Reflex to Genomic Unity® Exome Plus Analysis

ABCA1, ABCC8, ABCD1, ABCG5, ABCG8, ACAT1, ACSF3, ACTN4, ADCY3, AFF3, AGL, AIRE, ALDOA, ALDOB, ALMS1, AMH, AMHR2, ANOS1, AP2S1, APOA1, APOA5, APOB, APOC2, APOC3, APOE, AQP2, AR, ARL6, ARMC5, ARX, ATRX, AVPR2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BLK, BMP15, BSND, CASR, CCDC28B, CDC73, CDKN1A, CDKN1B, CDKN1C, CDKN2B, CDKN2C, CEL, CEP290, CEP41, CHD7, CLCNKB, CLDN16, CLDN19, CNNM2, CNNM4, COL1A1, COL1A2, CREB3L3, CREBBP, CUL4B, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DHCR7, DHH, DUOX2, DUOXA2, DUSP6, DYNC2H1, DYRK1B, EGF, EIF2AK3, ENO3, EPM2A, ERCC3, ETFA, ETFB, ETFDH, FBP1, FEZF1, FGF17, FGF23, FGF8, FGFR1, FIG4, FLRT3, FOXE1, FOXL2, FOXP3, FRAS1, FSHB, FSHR, FXYD2, G6PC, G6PC2, GAA, GALT, GATA4, GATA6, GBE1, GCK, GCM2, GH1, GHR, GLIS3, GLUD1, GNA11, GNAS, GNRH1, GNRHR, GPIHBP1, GYG1, GYS1, GYS2, HADH, HESX1, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HS6ST1, HSD11B2, HSD17B3, HSD3B2, IFT27, IGSF1, IL17RD, INF2, INS, INSR, IPF1, IRF6, KAL1, KCNA1, KCNJ10, KCNJ11, KISS1, KISS1R, KLF11, KRAS, KSR2, LAMB2, LAMP2, LDHA, LDLR, LDLRAP1, LEPR, LEPR, LHB, LHCGR, LIPA, LMF1, LMNA, LPL, LRP5, LZTFL1, MAGEL2, MAGT1, MAMLD1, MAP3K1, MC2R, MC3R, MEN1, MEN2, MKKS, MKRN3, MKS1, MPV17, MRAP, NEUROD1, NEUROG3, NF1, NHLRC1, NIPA2, NKX2-1, NKX2-2, NKX2-5, NNT, NOBOX, NPHS1, NPHS2, NR0B1, NR0B2, NR3C1, NR5A1, NROB1, NSMF, NTRK2, OXCT1, PAX4, PAX8, PC, PCBD1, PCK1, PCSK1, PCSK9, PDX1, PFKM, PGAM2, PGK1, PGM1, PHEX, PHF6, PHKA1, PHKA2, PHKB, PKD1, PKD2, PLCE1, POLG, POMC, PORCN, POU1F1, PPARG, PRKAG2, PRKAG3, PRKAR1A, PROK2, PROKR2, PROP1, PTF1A, PTH, PTPN11, PYGL, PYGM, RAF1, RBCK1, RET, RFX6, RSPO1, SARS2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHB, SECISBP2, SEMA3A, SEMA3E, SHOX, SIM1, SLC12A3, SLC16A1, SLC16A2, SLC26A4, SLC2A2, SLC37A4, SLC5A5, SOS1, SOX9, SPRY4, SRD5A2, SRY, STAR, TAC3, TACR3, TCF1, TCF2, TG, THRA, THRB, TPO, TRIM32, TRPC6, TRPM6, TSHB, TSHR, TTC8, UCP2, UCP3, VHL, VPS13B, WDPCP, WDR11, WFS1, WT1, ZFP57, ZFPM2

 
Disorders that can be tested for include: Adrenal hypoplasia congenita Adrenoleukodystrophy Bardet-Biedl syndrome Glucocorticoid deficiency Growth hormone deficiency Familial hypocalciuric hypercalcemia Hypercholesterolemia Hyperparathyroidism Hypophosphatemic rickets Hypothyroidism and resistance to thyroid hormone Inherited focal and segmental glomerulosclerosis Kallmann syndrome Liddle's syndrome Monogenic diabetes (MODY) Multiple endocrine neoplasia Nephrogenic diabetes insipidus Premature ovarian failure Pseudohypoaldosteronism type I

SNVs and Indels up to 50bp
99.8% sensitivity
99.7% positive predictive value

Structural variants:
96% clinical sensitivity

81173, 81403, 81404, 81405, 81406, 81407, 81408

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 6-8 weeks from sample receipt.