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Facioscapulohumeral muscular dystrophy type 1 (FSHD1)
Clinical Genetic Test
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offered by
Molecular Diagnostics Platform_Biogipuzkoa Health Research Institute
View lab's test page
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GTR Test Accession: Help GTR000569501.2
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Last updated in GTR: 2024-04-14
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Last annual review date for the lab: 2024-04-14 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Conditions (1): Help
Facioscapulohumeral muscular dystrophy 1
Chromosomal regions/ Mitochondria (1): Help
GRCh38 Chr4:182,300,000-190,214,555
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Southern blot analysis (Linear Gel Electrophoresis -LGE- or Pulsed Field Gel Electrophoresis -PFGE-)
Target population: Help
FSHD is suspected in individuals with the following: • Weakness …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostics Platform_Biogipuzkoa Health Research Institute
View lab's website
View lab's test page
Test short name: Help
FSHD1 Southern blot test
Manufacturer's name: Help
FSHD1
Specimen Source: Help
  • Chorionic villi
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Test Order Code: Help
FSHD1 Southern blot test
Lab contact: Help
Pilar Camano, PhD, Lab Director
[email protected]
0034943006127
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
http://www.biodonostia.org/wp-content/uploads/2018/01/Technique_Administrative_Molecular_Biodonostia_HRI.pdf
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
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:
Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Southern blot analysis (Linear Gel Electrophoresis -LGE- or Pulsed Field Gel Electrophoresis -PFGE-)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Target population: Help
FSHD is suspected in individuals with the following: • Weakness that predominantly involves the facial, scapular stabilizer, and foot dorsiflexor muscles without associated ocular or bulbar muscle weakness • Onset of signs typically by age 20 years. However, more mildly affected individuals show signs at a later age and some … View more
View citations (1)
  • Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Tawil R, et al. Ann Neurol. 1998;43(3):279-82. doi:10.1002/ana.410430303. PMID: 9506542.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
The majority of FSHD cases (95%) are associated with a deletion of an integral number of 3.3 kb tandem repeats in a polymorphic EcoRI fragment localized to the D4Z4 locus on chromosome 4q35. Unaffected individuals are observed to harbor 10 to 100 repeat units, while affected individuals have 1 to … View more
Test Platform:
None/not applicable
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Clinical studies indicate that this diagnostic technology is 90-95% sensitive and approaches 100% specificity for FSHD.
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
Consumer resources:

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