Spinal muscular atrophy-2, 253550, Autosomal recessive; SMA2 (Proximal spinal muscular atrophy) (MLPA)
- 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.: GTR000579869.1
- Last updated: 2020-05-19
- Annual Review past due read more
- Test version history
- 579869.1, last updated: 2020-05-19
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, type II
Offered by Intergen
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-2, 253550, Autosomal recessive; SMA2 (Proximal spinal muscular atrophy) (MLPA)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
Not provided
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)
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
- 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)
- EuroGenetest, 2012Clinical utility gene card for: proximal spinal muscular atrophy.
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