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GTR Home > Tests > SMN1 Deletion Analysis

Overview

Test order codeHelp: 6059

Test name

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SMN1 Deletion Analysis

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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How to order

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Not provided

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

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.