About this test
Measures SMN1 and SMN2 copy number. Loss of both SMN1 copies confirms SMA, one copy indicates carrier status, and the SMN2 copy number helps predict severity.
- Clinical area
- Inherited disorders
- Method
- MLPA
- Sample
- EDTA whole blood · Extracted DNA
- Report languages
- EN · AR · RU
When to order
Hypotonia or progressive weakness in infants, carrier screening, or a family history of SMA.
Results are reported to the ordering physician and should be interpreted in clinical context.
Request this test
Offer this test to your patients.
Contract pricing and turnaround times are provided on request for laboratories and clinics.
Inherited disorders