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Hereditary Neuropathy with Tendency to Pressure Palsies
Clinical Genetic Test
Help
offered by
Molecular Diagnostic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000005918.2
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2023-09-25
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Last annual review date for the lab: 2024-10-02 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic
Conditions (1): Help
Hereditary liability to pressure palsies
Genes (1): Help
PMP22 (17p12)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
to confirm a diagnosis of a PMP22-related neuropathy or to …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostic Laboratory
View lab's website
View lab's test page
Test short name: Help
HNPP
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Licensed Physician
Lab contact: Help
Claudia Carriles, MS, Certified Genetic counselor, CGC, Genetic Counselor
ccarriles@sharedhealthmb.ca
204-787-4033
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
4 mL EDTA whole blood; shipped at room temperature
Order URL
Test development: Help
Manufactured (research use only; not FDA-reviewed)
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
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)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic
Target population: Help
to confirm a diagnosis of a PMP22-related neuropathy or to identify at-risk family members where a familial PMP22 gene deletion or duplication has been previously identified.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
This clinical service test is available to Canadian residents only
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy (37/37) =100%; Specificity (15/15) =100%; Sensitivity = (22/22) = 100 %
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

Description of PT method: Help
Formal PT program (EMQN) once per year. Informal interlaboratory exchange program once per year.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
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.