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Spinal Muscular Atrophy via MLPA of SMN1 and SMN2
Clinical Genetic Test
Help
offered by
PreventionGenetics, part of Exact Sciences
View lab's test page
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GTR Test Accession: Help GTR000559622.4
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2019-10-02
View version history
Last annual review date for the lab: 2024-05-20 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (4): Help
Werdnig-Hoffmann disease; Kugelberg-Welander disease; Spinal muscular atrophy, type II more...
Genes (2): Help
SMN1 (5q13.2); SMN2 (5q13.2)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
This test is for diagnostic purposes and is intended for …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
PreventionGenetics, part of Exact Sciences
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
Test Order Code: Help
6064
View other test codes
How to Order: Help
Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 6064
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
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Contact policy, Test strategy
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
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)
Other
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
This test is for diagnostic purposes and is intended for individuals with clinical symptoms of SMA. Clinical indication needs to be provided on the Test Requisition Form. SMN2 copy number will be reported only for patients with zero copies of SMN1detected, or for symptomatic individuals with one SMN1 copy. This … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
The PreventionGenetics protocol for interpreting sequence variants has been carefully developed over a period of 10 years. We are conservative in our interpretations. We do not label a variant as pathogenic or benign without conclusive evidence. Although we use a variety of software to assist us in interpretation, we rely … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. Please visit our website for details at https://www.preventiongenetics.com/forms.php for Targeted variant tests.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Please visit our website for details http://preventiongenetics.com/
Recommended fields not provided:
Clinical validity, Clinical utility, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
As required, genomic DNA (gDNA) is extracted from the patient specimen. gDNA extracted from blood samples/submitted DNA from the patient is denatured and hybridized to MLPA probes specific to exonic or intronic regions of a particular gene(s). Each probe consists of two adjacent oligonucleotides that once hybridized to patient/reference DNA … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
MLPA enables the detection of relatively small deletion and insertion variants within a single (1) exon of a given gene or within an entire gene.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
GeneSplicer, Human Splicing Finder, MaxEntScan, Mutation Taster, NNSPLICE, PolyPhen 2, SIFT and Splice Site Finder.

Laboratory's policy on reporting novel variations Help
Sequence variants found in our patients are contributed to ClinVar. Anonymous patient sequence data will also be shared with researchers for preparation of peer-reviewed publications.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.