Card kit

Invitae Spinal Muscular Atrophy STAT Panel

Test code: 73000

Sponsored testing

In addition to insurance and patient-pay billing options, this test is also available through a sponsored, no-charge testing program.

Fast turnaround

This test has a faster turnaround time than most Invitae panels.

Test description

The Invitae Spinal Muscular Atrophy STAT test analyzes the copy number of SMN1, which is known to cause spinal muscular atrophy (SMA). SMA is a neuromuscular disorder caused by the loss of motor neurons within the spinal cord, resulting in progressive muscle weakness and atrophy. SMN2 copy number, which can modify disease severity in individuals with SMN1-related SMA, is reported for individuals with a homozygous deletion of SMN1. This test does not detect SMN1 sequence variants.

This test provides an accelerated 4 day turnaround time (TAT), which can facilitate urgent management and treatment decisions. Identification of homozygous deletion of SMN1 combined with the determination of SMN2 copy number is a predictor of disease severity and identifies those that would benefit from new and emerging therapies. Early intervention is critical to modulate the progressive degeneration seen in SMA.

Disorders tested

Ordering information

Turnaround time:

4 calendar days

New York approved:

Yes

Preferred specimen:

3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate specimens:

Saliva, assisted saliva and buccal swab. gDNA is not accepted
Learn more about specimen requirementsRequest a specimen collection kit

Clinical description

To view the complete clinical description of this panel, click here.

Clinical description

Assay information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory.

This test determines SMN1 and SMN2 exon 8 copy number by Droplet Digital PCR (ddPCR). Due to sequence similarity between SMN1 and SMN2, the copy number of exon 8 is used to infer the copy number of the entire gene. The ddPCR method is based on partitioning a PCR reaction with primers and probes for SMN1/2 and a copy number reference into 20,000 individual droplets, thermocycling, then measuring the endpoint fluorescence intensity of each droplet. The instrument software provides a count of the number of droplets for each genotype and generates an absolute count of the number of copies of each target in the reaction and thus the copy number. Use of ddPCR for both copy number and single-base discrimination is a well-established technology supported by commercial reagents, instrumentation, and analytical tools. Reported variants are not confirmed by an orthogonal technology.

Based on validation study results, this assay achieves >98.5% analytical sensitivity and specificity for SMN1 and SMN2 exon 8 deletions. Mosaic copy-number deletions and duplications may not be detected. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases (such as circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion, or maternal cell contamination), the analyzed DNA may not represent the patient's constitutional genome.

Assay information

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You can customize this test by clicking genes to remove them.

Primary panel

Required
2 genes selected
SMN1, SMN2

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