Number of Panel Genes: 
47

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

Tests Available

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
$1,460
Test Code: 6001
Please call for pricing

Test Details

Technical Information
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
Test Note: 
Please call for pricing
Disease Groups: 
Carrier Screening
Billing
CPT Codes: 
81200 x 1
81400 x 1
81405 x 1
81406 x 1
81209 x 1
81404 x 1
81220 x 1
81408 x 1
81242 x 1
81243 x 1
81250 x 1
81251 x 1
81401 x 1
81257 x 1
81361 x 1
81255 x 1
81260 x 1
81290 x 1
81329 x 1
81330 x 1
81479 x 1
Ordering
SKU:
6001
Turnaround Time: 

Typically within 2 weeks from receipt of a sample in the laboratory.

Non-Prenatal Specimens: 

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)

Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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