Myotonic Dystrophy
GTR Test Accession: Help GTR000522614.1
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Last updated in GTR: 2015-05-25
Last annual review date for the lab: 2023-01-18 Past due LinkOut
At a Glance
Diagnosis
Myotonic dystrophy
Genes (1): Help
DMPK (19q13.32)
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Centre for cellular and molecular biology
View lab's test page
Test short name: Help
MD
Pre-test genetic counseling required: Help
Not provided
Post-test genetic counseling required: Help
Not provided
Recommended fields not provided:
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 *
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
98%-99%, using a sample size of 96 individuals.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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