Invitae Spinal Muscular Atrophy STAT Panel
Use
The Invitae Spinal Muscular Atrophy STAT test is designed to analyze the copy number of SMN1, which is responsible for spinal muscular atrophy (SMA), a neuromuscular disorder characterized by the loss of motor neurons leading to progressive muscle weakness and atrophy. SMN2 copy number is also reported for individuals with a homozygous deletion of SMN1, as it can modify disease severity. This test aids in rapid diagnosis to facilitate urgent management and treatment decisions.
Special Instructions
The test offers a faster turnaround time compared to most Invitae panels and is available through a sponsored, no-charge testing program alongside traditional billing options. It does not detect SMN1 sequence variants, found in 2-5% of individuals affected with SMA. If sequence variants are suspected, the broader Invitae Spinal Muscular Atrophy Panel is recommended.
Limitations
The test analyzes SMN1 and SMN2 copy numbers but does not detect SMN1 sequence variants. Due to sequence similarity between SMN1 and SMN2, exon 8 is used to infer overall gene copy number. The assay has >98.5% analytical sensitivity and specificity for SMN1 and SMN2 exon 8 deletions, but mosaic copy-number deletions and duplications may not be detected. Very rare cases may involve sample issues where the analyzed DNA does not represent the patient's genome.
New York Approved
Methodology
PCR-based (ddPCR)
Biomarkers
Result Turnaround Time
4 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant