Casandra
Casandra Test Code VA33060Version 1 (DRAFT)
Performing Lab
Lab VariantyxLab Test ID EA001CPT Codes 81173, 81250, 81401, 81403, 81404, 81405, 81406, 81407, 81408, 81443, 81479
Genomic Unity® Endocrinology Analysis
Clinical Use
Order TestUse
Genomic Unity® Endocrinology Analysis is a diagnostic test designed to identify genetic variants causing endocrine disorders. It focuses on 280 genes associated with endocrine disorders and provides a comprehensive clinical report. The test replaces multiple tests, including multiplex ligation dependent probe amplification (MLPA) and single gene or targeted gene panel testing.
Special Instructions
Not provided.
Limitations
The test does not fully cover the AR, ARX, INF2, and LRP5 genes, potentially missing some pathogenic variants. Additionally, CEL and SHOX genes contain non-unique regions, making variant assignment challenging and interpretation limited.
Test Details
Methodology
NGS
Biomarkers
SNV (280 genes)
ABCA1ABCC8ABCD1ABCG5ABCG8ACAT1ACSF3ACTN4ADCY3AFF3AGLAIREALDOAALDOBALMS1AMHAMHR2ANOS1AP2S1APOA1APOA5APOBAPOC2APOC3APOEAQP2ARARL6ARMC5ARXATRXAVPR2BBIP1BBS1BBS2BBS4BBS5BBS7BBS9BBS10BBS12BCORBLKBMP15BSNDCASRCCDC28BCDC73CDKN1ACDKN1BCDKN1CCDKN2BCDKN2CCELCEP41CEP290CHD7CLCNKBCLDN16CLDN19CNNM2CNNM4COL1A1COL1A2CREB3L3CREBBPCUL4BCYP11A1CYP11B1CYP17A1CYP19A1DHCR7DHHDUOX2DUOXA2DUSP6DYNC2H1DYRK1BEGFEIF2AK3ENO3EPM2AERCC3ETFAETFBETFDHFBP1FEZF1FGF8FGF17FGF23FGFR1FIG4FLRT3FOXE1FOXL2FOXP3FRAS1FSHBFSHRFXYD2G6PCG6PC2GAAGALTGATA4GATA6GBE1GCKGCM2GH1GHRGLIS3GLUD1GNA11GNASGNRH1GNRHRGPIHBP1GYG1GYS1GYS2HADHHESX1HMGCLHMGCS2HNF1AHNF1BHNF4AHS6ST1HSD3B2HSD11B2HSD17B3IFT27IGSF1IL17RDINF2INSINSRIRF6KCNA1KCNJ10KCNJ11KISS1KISS1RKLF11KRASKSR2LAMB2LAMP2LDHALDLRLDLRAP1LEPRLHBLHCGRLIPALMF1LMNALPLLRP5LZTFL1MAGEL2MAGT1MAMLD1MAP3K1MC2RMC3RMEN1MKKSMKRN3MKS1MPV17MRAPNEUROD1NEUROG3NF1NHLRC1NIPA2NKX2-1NKX2-2NKX2-5NNTNOBOXNPHS1NPHS2NR0B1NR0B2NR3C1NR5A1NSMFNTRK2OXCT1PAX4PAX8PCPCBD1PCK1PCSK1PCSK9PDX1PFKMPGAM2PGK1PGM1PHEXPHF6PHKA1PHKA2PHKBPKD1PKD2PLCE1POLGPOMCPORCNPOU1F1PPARGPRKAG2PRKAG3PRKAR1APROK2PROKR2PROP1PTF1APTHPTPN11PYGLPYGMRAF1RBCK1RETRFX6RSPO1SARS2SCNN1ASCNN1BSCNN1GSDCCAG8SDHBSECISBP2SEMA3ASEMA3ESHOXSIM1SLC2A2SLC5A5SLC12A3SLC16A1SLC16A2SLC26A4SLC37A4SOS1SOX9SPRY4SRD5A2SRYSTARTAC3TACR3TGTHRATHRBTPOTRIM32TRPC6TRPM6TSHBTSHRTTC8UCP2UCP3VHLVPS13BWDPCPWDR11WFS1WT1ZFP57ZFPM2
Result Turnaround Time
4 weeks
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided