Genomic Unity® Endocrinology Analysis
EA001
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® Whole Genome 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, 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
SNVs and Indels up to 50bp
99.8% sensitivity
99.7% positive predictive value
Structural variants:
96% clinical sensitivity
- 81443 , 81173, 81250, 81401 x2, 81403 x4, 81404 x5, 81405 x2, 81406 x2, 81407, 81408 x2, 81479 x3
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