Invitae Spinal Muscular Atrophy Panel
Use
The Invitae Spinal Muscular Atrophy panel analyzes SMN1, which is known to cause spinal muscular atrophy (SMA), and SMN2, which can modify the phenotype in individuals with SMN1-related SMA. Individuals with clinical signs and symptoms of SMA may benefit from diagnostic genetic testing to confirm the diagnosis, provide anticipatory guidance, help determine which relatives are at risk, and to guide treatment and enrollment in certain clinical trials. The presence of multiple copies of the SMN2 gene is associated with a milder phenotype or, rarely, non-penetrance.
Special Instructions
Not provided.
Limitations
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp in length, and exon-level deletions and duplications. Certain types of variants, such as structural rearrangements (e.g., inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g., short tandem repeats or segmental duplications), may not be detected. Certain limitations in the analysis of these genes will be listed on the report.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
SMN1
GeneSMN2
Gene
Result Turnaround Time
10-21 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