GTR Test Accession:
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GTR000053045.5
Last updated in GTR:
2018-02-12
View version history
GTR000053045.5,
last updated:
2018-02-12
GTR000053045.4,
last updated:
2017-02-25
GTR000053045.3,
last updated:
2014-08-07
GTR000053045.2,
last updated:
2014-03-01
GTR000053045.1,
registered in GTR:
2014-03-01
Last annual review date for the lab: 2024-02-15
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (5):
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Genes (1):
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SMN1 (5q13.2)
Methods (3):
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Molecular Genetics - Deletion/duplication analysis: Quantitative multiplex PCR to determine copy number; Semi-Quantitative multiplex PCR; ...
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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SMA
Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Lab contact:
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Contact Policy:
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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:
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Patient samples should be shipped via overnight delivery at room temperature. Each specimen should be labeled with the patient’s name, date of birth, medical record number/unique identifier, and date of sample collection. No weekend or holiday deliveries.
Send specimens with a completed sample requisition form, otherwise, specimen processing …
Send specimens with a completed sample requisition form, otherwise, specimen processing …
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Custom Sequence Analysis
Custom Sequence Analysis
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Test strategy
Conditions
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Total conditions: 5
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 3
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Quantitative multiplex PCR to determine copy number
Deletion/duplication analysis
Semi-Quantitative multiplex PCR
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500 capillary sequencing instrument
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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 Comments:
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Targeted mutation analysis for deletion of SMN1 exon 7-8
Sequence analysis of entire coding region of SMN1 and SMN2 (exons, splicing signals and parts of surrounding introns)
Sequencing performed only after deletion testing has been done (applies to affected individuals and parents of individuals with compound heterozygosity for a deletion and an intragenic mutation)
Prenatal testing only when affected individual was tested in this laboratory
Sequence analysis of entire coding region of SMN1 and SMN2 (exons, splicing signals and parts of surrounding introns)
Sequencing performed only after deletion testing has been done (applies to affected individuals and parents of individuals with compound heterozygosity for a deletion and an intragenic mutation)
Prenatal testing only when affected individual was tested in this laboratory
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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99% accurate by PCR and sequencing
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
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:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Practice guidelines:
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.