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Muscular dystrophy, limb-girdle 2B
Clinical Genetic Test
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offered by
Praxis fuer Humangenetik Wien
GTR Test Accession: Help GTR000504767.1
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Registered in GTR: 2013-07-04
View version history
Last annual review date for the lab: 2022-11-24 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Autosomal recessive limb-girdle muscular dystrophy type 2B
Genes (1): Help
DYSF (2p13.2)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Praxis fuer Humangenetik Wien
View lab's website
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, Specimen source, 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: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* 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?, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sequencing system Roche GS Junior 454: Q20 read length of 400 bases (99% accuracy at 400 bases and higher for preceding bases)(Roche). Error rates usually originate in homopolymeric stretches. If such problems are encountered or if pathogenic sequence variants are found, we validate the NGS data with Sanger sequencing. MLPA … 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

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