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Peripheral myelin protein 22 (PMP22) gene dosage evaluation by MLPA … see more Peripheral myelin protein 22 (PMP22) gene dosage evaluation by MLPA analysis  see less
Clinical Genetic Test
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offered by
Neurogenetics Department
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GTR Test Accession: Help GTR000078603.3
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2015-11-26
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Last annual review date for the lab: 2021-01-29 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (1): Help
Charcot-Marie-Tooth disease, type IA
Genes (1): Help
PMP22 (17p12)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
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 Department
View lab's website
View lab's test page
Test short name: Help
CMT1A
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
28-6.05
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
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Decline to answer
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
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3130 Genetic Analyzer
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)
  • Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Slater H, et al. Hum Mutat. 2004;24(2):164-71. doi:10.1002/humu.20072. PMID: 15241798.
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
Multiplex ligation-dependent probe amplification [MLPA] and Applied Biosystems automated fragment analysis of the 1.5-Mb duplication/deletion region on chromosome 17p11.2, that is involved in duplication of the PMP22 gene causing Charcot-Marie-Tooth type 1 [CMT1A] or deletion of the PMP22 gene causing hereditary neuropathy with liability to pressure palsies [HNPP]. Duplication of … View more
Test Confirmation: Help
different method or new sample
Test Comments: Help
Mutation: PMP22 duplication
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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