Charcot-Marie-Tooth 2C
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000506771.1
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2013-08-22
Last annual review date for the lab: 2021-03-18 Past due LinkOut
At a Glance
Diagnosis
Charcot-Marie-Tooth disease axonal type 2C
Genes (1): Help
TRPV4 (12q24.11)
Molecular Genetics - Sequence analysis of the entire coding region: Uni-directional Sanger sequencing
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
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:
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 *
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
* 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
Sanger sequencing with >98,5% accuracy
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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