The Extended carrier screening panel is designed to detect carriers of all the genes on the Common carrier screening panel plus an additional 29 genes to provide a more comprehensive evaluation of genetic carrier status. These disorders are primarily severe, childhood onset disorders with autosomal recessive or X-linked inheritance. This test will identify individuals who are at risk of having a child with these disorders.read more
47 Panel Genes: ACADM, ARSA, ARSB, ASPA, ASS1, BCKDHA, BCKDHB, BLM, BTD, CFTR, DHCR7, DMD, ELP1, FANCC, FMR1, G6PC, GAA, GALC, GALE, GALK1, GALT, GAMT, GATM, GBA, GLA, HBA1, HBA2, HBB, HEXA, HFE, IDS, IDUA, IVD, MCOLN1, MMACHC, OTC, PAH, PHKA2, PHKG2, PKHD1, PYGL, SLC37A4, SLC6A8, SMN1, SMN2, SMPD1, SUMF1
Next Gen Sequencing & Del/Dup Analysis PCR Fragment Length Analysis
Test Code: 6001
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Typically within 2 weeks from receipt of a sample in the laboratory.
1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
2. Genomic DNA: a minimum of 3 ug (at a concentration of at least 30 ng/ul)
Ship all specimen types at room temperature by overnight courier. Do not freeze.