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Spinal muscular atrophy type 1 (SMN1 gene)
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000568354.4
CAP
MUSCULOSKELETALNERVOUS SYSTEM
Last updated in GTR: 2022-08-01
View version history
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Spinal muscular atrophy
Genes (1): Help
SMN1 (5q13.2)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Not provided
Clinical validity: Help
Approximately 60–70% of patients with SMA have the type I …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
SMN1
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2512
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
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, 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: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
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 … View more
View citations (1)
  • Technical standards and guidelines for spinal muscular atrophy testing. Prior TW, et al. Genet Med. 2011;13(7):686-94. doi:10.1097/GIM.0b013e318220d523. PMID: 21673580.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Technical standards and guidelines for spinal muscular atrophy testing. Prior TW, et al. Genet Med. 2011;13(7):686-94. doi:10.1097/GIM.0b013e318220d523. PMID: 21673580.

Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Target population, What is the protocol for interpreting a variation as a VUS?, 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
For validation, samples from seven patients with clinical diagnosis of SMA (known genotype) and six samples from the CAP of 2013 were analyzed using SALSA MLPA P460 SMA probemix kit. 100% of concordancy was obtained.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.