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Prenatal Carrier Screen (CF, Fragile X, SMA)
Test Code90949
CPT Codes
81220, 81243, 81329
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Includes
Panel Summary
Cystic Fibrosis Screen
XSense®, Fragile X with Reflex
Spinal Muscular Atrophy (SMA) Carrier Screen
If Fragile X, PCR is not Normal or Gray zone, then Fragile X Methylation Analysis will be performed at an additional charge (CPT(s): 81244).
Cystic Fibrosis Screen
XSense®, Fragile X with Reflex
Spinal Muscular Atrophy (SMA) Carrier Screen
If Fragile X, PCR is not Normal or Gray zone, then Fragile X Methylation Analysis will be performed at an additional charge (CPT(s): 81244).
Preferred Specimen
4 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
4 mL
Other Acceptable Specimens
Whole blood collected in: ACD (yellow-top) tube
Instructions
Normal phlebotomy procedure. Specimen stability is crucial. Store at room temperature and ship immediately. Do not freeze.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Refrigerated: 8 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Do Not Reject: Call lab
Methodology
See individual tests
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Night
Clinical Significance
This panel identifies individuals at risk of having offspring with Cystic Fibrosis (the most common life-limiting autosomal recessive disease), Fragile X syndrome (the most common cause of inherited intellectual disability), and Spinal Muscular Atrophy (the second most common lethal autosomal recessive disease).