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Peripheral Myelin Protein 22 (PMP22) gene sequencing test
Clinical Genetic Test
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offered by
Neurogenetics
View lab's test page
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GTR Test Accession: Help GTR000284155.3
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2015-11-26
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Last annual review date for the lab: 2024-09-04 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (1): Help
Charcot-Marie-Tooth disease type 1E
Genes (1): Help
PMP22 (17p12)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Charcot-Marie-Tooth disease patients
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Neurogenetics
View lab's website
View lab's test page
Test short name: Help
CMT1E
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
28-6.04
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
Completion of the laboratory referral letter by the referring physician/scientist. Provision of a signed informed consent form. Both forms are available on the laboratory website.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal 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
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test, Test strategy
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
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130xl genetic analyser
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Charcot-Marie-Tooth disease patients
View citations (1)
  • Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. Roa BB, et al. N Engl J Med. 1993;329(2):96-101. doi:10.1056/NEJM199307083290205. PMID: 8510709.
Recommended fields not provided:
Clinical validity, 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 Procedure: Help
PCR amplification and automated sequence analysis of the peripheral myelin 22 (PMP22) exons 1 to 4. The primer sequences used for this analysis are described by Roa et al (1993). Both forward and reverse sequence analyses are performed using the Applied Biosystems Big Dye Terminator V1.1 cycle sequencing kit and … View more
View citations (1)
  • Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. Roa BB, et al. N Engl J Med. 1993;329(2):96-101. doi:10.1056/NEJM199307083290205. PMID: 8510709.
Test Confirmation: Help
different method or new sample
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% precise
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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