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Charcot-Marie-Tooth Type 1A
Clinical Genetic Test
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offered by
Molecular Genetics Laboratory
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GTR Test Accession: Help GTR000508976.5
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2021-10-02
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Last annual review date for the lab: 2024-08-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic
Conditions (2): Help
Charcot-Marie-Tooth disease, type IA; Charcot-Marie-Tooth disease, type I
Genes (1): Help
PMP22 (17p12)
Methods (1): 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
Molecular Genetics Laboratory
View lab's website
View lab's test page
Test short name: Help
CMT
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fresh tissue
  • Frozen tissue
  • Peripheral (whole) blood
  • Product of conception (POC)
Lab contact: Help
Molecular Genetics Laboratory, Laboratory Contact
moleculargenetics@cw.bc.ca
604-875-2852
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
Currently, samples are only accepted from residents of Canada. Please use the General Requisition form on our website.
Order URL
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, Test strategy, Test development
Conditions Help
Total conditions: 2
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
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Other
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic
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
Test Comments: Help
Note: This assay will detect both CMT1A and HNPP.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
CMT1A is caused by an 1.5 Mb duplication in 17p11.2, which results in the inheritance of three copies of the PMP22 gene. Inheritance is autosomal dominant; 20 - 33% of cases are due to de novo duplications. This test detects only PMP22 gene duplications (CMT1A) and deletions (causative of hereditary … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory
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
Category: Not Applicable
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.