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
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, NPSH2, 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
SNVs and Indels up to 50bp
99.7% positive predictive value
96% clinical sensitivity
Disorders that can be tested for include:
Adrenal hypoplasia congenita
Growth hormone deficiency
Familial hypocalciuric hypercalcemia
Hypothyroidism and resistance to thyroid hormone
Inherited focal and segmental glomerulosclerosis
Monogenic diabetes (MODY)
Nephrogenic diabetes insipidus
Premature ovarian failure
Pseudohypoaldosteronism type I
81173x1, 81403x4, 81404x19, 81405x22, 81406x35, 81407x10, 81408x5
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.