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GTR Home > Tests > Invitae Spinal Muscular Atrophy Panel


Test order codeHelp: 03245

Test name


Invitae Spinal Muscular Atrophy Panel

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Pre-symptomatic, Therapeutic management



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How to order


Tests can be ordered online or by submitting a paper requisition form.
Order URL Help: https://www.invitae.com/ordering/?utm_source=gtr&utm_medium=referral

Specimen source

Buccal swab
Isolated DNA
Peripheral (whole) blood


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Clinical utility


Not provided

Clinical validity


Not provided

Testing strategy


Full gene sequencing and deletion/duplication analysis of targeted gene 000 Tests can be ordered online or by submitting a paper requisition form.

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously

Suggested reading

Practice guidelines

  • ACMG ACT, 2020
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Exon 7 Deletion (Pathogenic Variant) in Survival Motor Neuron Gene (SMN1), Spinal Muscular Atrophy (SMA), 2020
  • ACMG ACT, 2018
    ACMG Carrier Screening ACT Sheet Spinal Muscular Atrophy (SMA)
  • EuroGenetest, 2012
    Clinical utility gene card for: proximal spinal muscular atrophy.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.