Classic view of this page
Facioscapulohumeral muscular dystrophy
Clinical Genetic Test
Help
offered by
CHEO Genetics Diagnostic Laboratory
GTR Test Accession: Help GTR000560783.2
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Last updated in GTR: 2023-07-07
View version history
Last annual review date for the lab: 2024-07-04 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Facioscapulohumeral muscular dystrophy
Genes (1): Help
DUX4 (4q35.2)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Optical genome mapping
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
CHEO Genetics Diagnostic Laboratory
View lab's website
Test short name: Help
FSHD
Specimen Source: Help
  • Peripheral (whole) blood
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:
Test Order Code, How to Order, Lab contact for this test, Contact policy, 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
Optical genome mapping
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is an autosomal dominant form of muscular dystrophy caused by contraction of the D4Z4 repeat array in the subtelomeric region of chromosome 4q35 on a chromosome 4 permissive haplotype (4qA). Normal alleles are D4Z4 repeat arrays with =12 units or with any number of … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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
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.