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Survival motor neuron 1 (SMN1) and 2 (SMN2) gene dosage … see more Survival motor neuron 1 (SMN1) and 2 (SMN2) gene dosage evaluation by MLPA analysis  see less
Clinical Genetic Test
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offered by
Neurogenetics
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GTR Test Accession: Help GTR000078635.3
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Last updated in GTR: 2015-11-26
View version history
Last annual review date for the lab: 2024-09-04 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
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
Spinal Muscular Atrophy patients
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Neurogenetics
View lab's website
View lab's test page
Test short name: Help
SMA1, SMA2, SMA3
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
28-7.01
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.
How to Order: Help
Completion of the laboratory referral letter by the referring physician/scientist. Provision of a signed informed consent form. Both forms are available on the laboratory website.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test, Test strategy
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; Pre-symptomatic; Risk Assessment
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)
  • Prior TW, Leach ME, Finanger EL. Spinal Muscular Atrophy. 2000 Feb 24 [updated 2024 Sep 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301526.
  • https://www.ncbi.nlm.nih.gov/books/NBK1352

Target population: Help
Spinal Muscular Atrophy patients
View citations (2)
  • Scarciolla O, Stuppia L, De Angelis MV, Murru S, Palka C, Giuliani R, Pace M, Di Muzio A, Torrente I, Morella A, Grammatico P, Giacanelli M, Rosatelli MC, Uncini A, Dallapiccola B. Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification. Neurogenetics. 2006;7(4):269-76. doi:10.1007/s10048-006-0051-3. Epub 2006 Jul 22. PMID: 16865356.
  • PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. van der Steege G, et al. Lancet. 1995;345(8955):985-6. PMID: 7715313.
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
Test Procedure: Help
Multiple ligation-dependent probe amplification [MLPA] and Applied Biosystems 3130xl Genetic Analyser automated fragment analysis of the SMN region on chromosome 5q12.2-13.3. Analysis is performed using the MLPA SMA kit [p021] and results are analysed with the Coffalyser software of MRC-Holland. MLPA is a quantitative analysis that enables detection of copy … View more
View citations (2)
  • Scarciolla O, Stuppia L, De Angelis MV, Murru S, Palka C, Giuliani R, Pace M, Di Muzio A, Torrente I, Morella A, Grammatico P, Giacanelli M, Rosatelli MC, Uncini A, Dallapiccola B. Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification. Neurogenetics. 2006;7(4):269-76. doi:10.1007/s10048-006-0051-3. Epub 2006 Jul 22. PMID: 16865356.
  • PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. van der Steege G, et al. Lancet. 1995;345(8955):985-6. PMID: 7715313.
Test Confirmation: Help
different method or new sample
Test Comments: Help
Targeted mutation analysis for deletion of SMN1 exon 7-8
SMN1 dosage analysis (copy number) for carrier testing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% precise
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
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
Category: Not Applicable
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.