Charcot-Marie-Tooth Neuropathy Type 1A
GTR Test Accession: Help GTR000214043.7
Last updated in GTR: 2021-10-07
Last annual review date for the lab: 2023-10-12 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Recurrence
Charcot-Marie-Tooth disease, type IA
Cytogenetics - FISH-interphase: Fluorescence in situ hybridization; ...
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Ordering Information
Offered by: Help
Warren G. Sanger Human Genetics Laboratory
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View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Lab contact: Help
Joanna Spaulding, MS, Certified Genetic counselor, CGC, Genetic Counselor
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
The requisition is found at, select client services and then requisitions. Please fully complete the required information. We are able to receive specimens from 8:00am-5:00pm (CST) seven days a week. Specimen requirements can be found under the test directory ( Feel free to call the lab at 402-559-6420 for …
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Order URL
Test additional service: Help
Custom Prenatal Testing
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Total methods: 2
Method Category Help
Test method Help
Instrument *
Fluorescence in situ hybridization
Fluorescence in situ hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Recurrence
Recommended fields not provided:
Technical Information
Test Comments: Help
Prenatal diagnostic testing utilizing FISH methods is available if there is a known chromosome abnormality in the parents.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendment of 1998 ("CLIA") as qualified to perform high complexity clinical testing.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Description of PT method: Help
Participating in proficiency testing as available by CAP.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
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.