Charcot-Marie-Tooth Neuropathy Type 2C
GTR Test Accession: Help GTR000322874.4
NERVOUS SYSTEMINHERITED DISEASE
Last updated in GTR: 2018-02-09
Last annual review date for the lab: 2024-02-15 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Charcot-Marie-Tooth disease axonal type 2C
Genes (1): Help
TRPV4 (12q24.11)
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Test short name: Help
CMT2C
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Lab contact: Help
Susan Kirwin, Lab Associate Director
skirwin@nemours.org
302-651-6775
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
Patient samples should be shipped via overnight delivery at room temperature. Each specimen should be labeled with the patient’s name, date of birth, medical record number/unique identifier, and date of sample collection. No weekend or holiday deliveries. Send specimens with a completed sample requisition form, otherwise, specimen processing may be …
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Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Test additional service: Help
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
Decline to answer
Test strategy: Help
Testing can be performed by sequencing only exons 5 and 6, or sequencing all 16 exons, including part of the 5’ UTR, the surrounding intronic regions, all the exon-intron boundaries and splice sites, and part of the 3' UTR.
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 select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Test Comments: Help
Sequence analysis of exons 5, 6
Sequencing analysis of the entire coding region
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% accurate by PCR and sequencing
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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