GTR Test Accession:
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GTR000219919.6
Last updated in GTR:
2023-04-12
View version history
GTR000219919.6,
last updated:
2023-04-12
GTR000219919.5,
last updated:
2022-04-18
GTR000219919.4,
last updated:
2017-03-22
GTR000219919.3,
last updated:
2016-04-19
GTR000219919.2,
last updated:
2016-03-30
GTR000219919.1,
registered in GTR:
2014-04-07
Last annual review date for the lab: 2024-03-25
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Predictive
Conditions (2):
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Facioscapulohumeral muscular dystrophy;
Facioscapulohumeral muscular dystrophy 2
18p11 deletion;
4q35 A/B haplotype;
4q35 D4Z4 deletion;
4q35 hypomethylation
Genes (1):
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SMCHD1 (18p11.32)
Methods (4):
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Molecular Genetics - Deletion/duplication analysis: Optical Mapping; ...
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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FSHD
Specimen Source:
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- Cell culture
- Peripheral (whole) blood
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
CPT codes:
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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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Do Not Centrifuge blood specimens.
Label transport tube with two patient identifiers, date and time of collection.
Patient's age and sex is required on requisition for processing.
Relevant clinical information must be submitted with specimen in order to provide correct interpretation of test results.
Submit whole blood in original …
Label transport tube with two patient identifiers, date and time of collection.
Patient's age and sex is required on requisition for processing.
Relevant clinical information must be submitted with specimen in order to provide correct interpretation of test results.
Submit whole blood in original …
Order URL
Test additional service:
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Custom Prenatal Testing
Informed consent required:
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Based on applicable state law
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,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 2
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 4
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 4
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Optical Mapping
Methylation analysis
Southern blot hybridization
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Other
Targeted variant analysis
Southern blot hybridization
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Predictive
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 Platform:
Other
Test Comments:
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D4Z4 locus
Testing includes sizing of the D4Z4 repeats, haplotype analysis for the 4qA permissive allele and if necessary methylation analysis, SMCHD1 full gene sequencing, and/or chromosome 18 deletion analysis .
Testing includes sizing of the D4Z4 repeats, haplotype analysis for the 4qA permissive allele and if necessary methylation analysis, SMCHD1 full gene sequencing, and/or chromosome 18 deletion analysis .
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Optical Mapping, Pulsed Field Gel Electrophoresis and Southern blotting diagnostic methods enable the identification of FSHD1 in about 95% of cases. Further analysis for hypomethylation and/or SMCHD1, DNMT3B, and LRIF1 mutation status may identify remaining patients with FSHD2. Complicated genetic situations might result in false positive or false negative testing.
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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Not provided
Additional Information
Clinical 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.