Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies
Use
Carrier screening for cystic fibrosis (CF) and spinal muscular atrophy (SMA) helps assess reproductive risk in individuals, including those in the general population or with a family history when familial variants are unavailable. This test is not intended for diagnosing affected individuals but rather to refine reproductive risk (standard‑of‑care per ACOG and ACMG) by detecting specific CFTR, SMN1, and SMN2 variants. The test includes over 500 variants, including the 23 CFTR variants recommended by ACMG. Negative predictive value is greater than 98%, though detection rates vary by ancestry, and certain rare variants or technical limitations mean residual risk may remain; results should be interpreted in context of clinical and family history.
Special Instructions
If family history exists, known familial variants should be supplied for best interpretation. For diagnostic testing, order CFMP; for familial targeted testing, order FMTT. If testing reproductive partners, contact lab for updated risk assessment. Previous allogenic hematopoietic stem cell transplant interferes with testing; contact lab for guidance.
Limitations
Detection rates and carrier frequencies vary across ethnicities; rare or atypical variants may not be detected. Some variants may lack positive controls. Negative results reduce but do not eliminate residual risk; interpretation depends on ancestry and family history. Technical limitations (DNA quality/quantity) may preclude testing; extraction failures may result in test cancellation and associated charges. In‑silico tools used for interpretation are unvalidated; misinterpretation may occur if clinical or family history is inaccurate.
New York Approved
Methodology
NGS
Biomarkers
LOINC Codes
- 98039-1
- 50397-9
- 82939-0
- 69047-9
- 48767-8
- 85069-3
- 31208-2
- 18771-6
Result Turnaround Time
7-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
Previous allogenic hematopoietic stem cell transplant interferes with testing; call lab for instructions.
Causes for Rejection
DNA requirements inadequate; poor quality or insufficient volume; prior allogenic stem cell transplant may interfere.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days ambient |
| Refrigerated | 4 days refrigerated |
| Frozen | 4 days frozen |