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Prenatal Carrier Panel (CFvantage, Fragile X, SMA)
Test Code93349
CPT Codes
81220, 81243, 81329
Includes
Panel Summary
CFvantage® Cystic Fibrosis Expanded Screen
XSense®, Fragile X with Reflex
Spinal Muscular Atrophy (SMA) Carrier Screen
If Fragile X, PCR shows a premutation or a full mutation, then Fragile X Methylation Analysis will be performed at an additional charge (CPT codes(s): 81244)
CFvantage® Cystic Fibrosis Expanded Screen
XSense®, Fragile X with Reflex
Spinal Muscular Atrophy (SMA) Carrier Screen
If Fragile X, PCR shows a premutation or a full mutation, then Fragile X Methylation Analysis will be performed at an additional charge (CPT codes(s): 81244)
Preferred Specimen
4 mL whole blood collected in an EDTA (lavender-top) or ACD (yellow-top) tube
Minimum Volume
3 mL
Instructions
Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature 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
Setup Schedule
Night Sets up 1 day a week.
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).
