Hereditary Neuropathy with Liability to Pressure Palsies (PMP22)

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000319468.5
Last updated: 2024-02-07
Test version history
- 319468.5, last updated: 2024-02-07
- 319468.4, last updated: 2023-02-08
- 319468.3, last updated: 2016-02-17
- 319468.2, last updated: 2014-03-05
- 319468.1, last updated: 2014-03-05

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Hereditary liability to pressure palsies
Offered by Molecular Genetics Laboratory

Interpretation

Not provided

Variants Of Unknown Significance (VUS) Policy And Interpretation

What is the protocol for interpreting a variation as a VUS? HelpDescription of how the laboratory handles Variants of Unknown Significance. This may be a general statement for the laboratory and not specific to this test.: Novel variations are interrogated using a series of tools. Literature reviews and a search of relevant databases and dbSNP is pursued. This is followed by evaluation using web based insilco analysis including, but not restricted to SIFT, Polyphen2, AlignGVGD, SNPs&GO and ASSEDA(splice). If the pathogenicity is still indeterminate (ACMG group 3) then intralaboratory communications are pursued as well as possible segregation analysis of the family when permitted
What software is used to interpret novel variations? HelpList of the software applications that the lab uses to interpret novel variants. Examples for medical molecular genetics interpretation include: Melina II, MEME Suite, VISTACartagenia Bench, Alamut, SIFT, PolyPhen, Align-GVGD, GeneSplicer, laboratory proprietary internal software.: May include, but not restricted to SNP&Go, SIFT, Polyphen2, dbSNP, ASSEDA
What is the laboratory's policy on reporting novel variations? HelpDescription of how the lab reports novel variations, it may include who gets contacted and how (ex. person ordering the test will be contacted via telephone as soon as VUS is identified).: All variants interpreted as either ACMG category 1, 2, or 3 (pathogenic, likely pathogenic, VUS; PMID: 25741868) are confirmed using Sanger sequencing, MLPA, or other assays. ACMG category 4 and 5 variants (likely benign, benign) are not reported, but are available upon request.
Are family members with defined clinical status recruited to assess significance of VUS without charge?HelpDoes the laboratory offer testing for a variant of unknown significance to family members, free of charge? (Is test offered to affected individuals and/or presumed obligate carriers to help determine clinical significance of a VUS?): Not provided
Will the lab re-contact the ordering physician if variant interpretation changes? HelpDescription of laboratory procedures to monitor and address reinterpretation of genetic tests results over time, after issuing the report. Does laboratory systematically re-evaluate prior interpretations and generate new reports, or does the person ordering the test need to periodically recontact the labortory to inquire about changes in test interpretation?: Not provided

Research

Is research allowed on the sample after clinical testing is complete?HelpAfter clinical testing is complete, does the laboratory perform any research testing using the submitted specimen? (Quality control is not considered as research for this question.): Not provided

Reviews

Clinical resources

Practice guidelines

EuroGenetest, 2010
Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

Molecular resources

Consumer resources

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