Spinal muscular atrophy type 1 (SMN1 gene)
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000568354.4
- Last updated: 2022-08-01
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Spinal muscular atrophy
Offered by Molecular Genetics and Cytogenetics, Clinical Laboratory Service
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Spinal muscular atrophy type 1 (SMN1 gene) (SMN1)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
Not provided
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Multiplex Ligation-dependent Probe Amplification (MLPA)
Establish or confirm diagnosis
- Technical standards and guidelines for spinal muscular atrophy testing. - PubMed ID: 21673580
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Approximately 60–70% of patients with SMA have the type I disease. Homozygous variants of the SMN1 gene cause SMA. Both copies of the SMN1 gene are absent in approximately 95% of affected patients. The remaining 5% of patients have nonsense, frameshift, or missense variants within the gene (not detected in this test)
- Technical standards and guidelines for spinal muscular atrophy testing. - PubMed ID: 21673580
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- ACMG ACT, 2020American 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, 2018ACMG Carrier Screening ACT Sheet Spinal Muscular Atrophy (SMA)
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