Prenatal Carrier Screen (CF, Fragile X, SMA)

Test Code

90949

CPT Codes
81220, 81243, 81329

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).

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

Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.

Acceptable specimen: Cultured cells from amniotic fluid, or cultured cells from CVS.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 8 days
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

Set up: Sun; Report available: 7-14 days

Reference Range

See Laboratory Report

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).

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.