SMN1/SMN2 Copy Number Analysis
Use
The SMN1/SMN2 Copy Number Analysis is utilized to identify pathogenic variants associated with spinal muscular atrophy (SMA), a condition characterized by progressive loss of motor neurons leading to muscle weakness and atrophy. Different types of SMA exhibit varying severity and onset ages, from the severe Type 0 seen at birth to the milder Type IV which appears in adulthood. This test is critical for diagnosing patients with symptomatic SMA and those who have positive newborn screenings, ensuring timely diagnosis and management. Understanding the genetic underpinnings allows for informed family planning and carrier testing.
Special Instructions
Samples must be sent under specific collection instructions. For patients over 10 years of age, a physician's note is required if symptomatic. Testing does not include carrier screening for SMA. Proper handling and shipping conditions must be followed to ensure sample integrity.
Limitations
While the assay detects common pathogenic variants, it does not identify all possible mutations in the SMN1 gene. Specifically, pathogenic sequence variants of SMN1 may not be detected. Additionally, for individuals over 10 years, symptoms must be confirmed by a healthcare provider to ensure appropriate testing. Carrier status cannot be assessed via this test, which can lead to undetected risks for families.
New York Approved
Methodology
PCR-based (MLPA)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc
Minimum Volume
3 cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs)