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Carrier Screening - Spinal Muscular Atrophy (SMN1)
Clinical Genetic Test
Help
offered by
Genesys Diagnostics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000607969.1
CAP
Registered in GTR: 2023-08-15
View version history
Last annual review date for the lab: 2024-07-05 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (1): Help
Autosomal dominant proximal spinal muscular atrophy
Genes (1): Help
SMN1 (5q13.2)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: PCR; ...
Target population: Help
Patients who are considering reproduction (carrier screening), are suspected of …
Clinical validity: Help
Not provided
Clinical utility: Help
Reproductive decision-making
Ordering Information
Offered by: Help
Genesys Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
  • Buccal swab
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
  • Nurse Practitioner
Test Order Code: Help
CSSMA
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
PCR
Targeted variant analysis
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Clinical utility: Help
Reproductive decision-making
View citations (1)
  • Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS, . Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(10):1793-1806. doi:10.1038/s41436-021-01203-z. Epub 2021 Jul 20. PMID: 34285390.

Target population: Help
Patients who are considering reproduction (carrier screening), are suspected of SMA, have a known family history of SMA, or have a known family history of SMN1 carrier status.
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The GDI SMN1 Fragment Analysis Assay uses multiplex PCR and capillary electrophoresis to detect the copy number of the SMN1 gene and the g.27134T>G and g.27706-27707delAT silent carrier risk factor SNPs. The assay was validated by Genesys Diagnostics with a sensitivity and specificity of 100%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP

CAP Testing Information (legacy) Help
CAP/ACMG Molecular Genetics Series; Spinal muscular atrophy (SMN1 and SMN2 genes); MGL2
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.