Peripheral myelin protein 22 (PMP22) gene dosage evaluation by MLPA analysis - Clinical Genetic Test - GTR

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

offered by

Neurogenetics

View lab's test page

GTR Test Accession: GTR000078603.3

INHERITED DISEASENERVOUS SYSTEM

Last updated in GTR: 2015-11-26

Last annual review date for the lab: 2024-09-04

At a Glance

Test purpose:

Diagnosis; Mutation Confirmation; Pre-symptomatic; ...

Conditions (1):

Charcot-Marie-Tooth disease, type IA

Genes (1):

PMP22 (17p12)

Methods (1):

Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)

Target population:

Charcot-Marie-Tooth disease patients

Clinical validity:

Not provided

Clinical utility:

Establish or confirm diagnosis

Ordering Information

Offered by:

Neurogenetics
View lab's website
View lab's test page

Test short name:

CMT1A

Specimen Source:

Isolated DNA
Peripheral (whole) blood
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Physician

Test Order Code:

28-6.05

Contact Policy:

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:

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:

Clinical Testing/Confirmation of Mutations Identified Previously

Test additional service:

Custom Prenatal Testing
Custom mutation-specific/Carrier testing

Test development:

Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)

Informed consent required:

Yes

Pre-test genetic counseling required:

Yes

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Lab contact for this test, Test strategy

Conditions

Total conditions: 1

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument

Deletion/duplication analysis

Multiplex Ligation-dependent Probe Amplification (MLPA)

Applied Biosystems 3130 Genetic Analyzer

Clinical Information

Test purpose:

Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment

Clinical utility:

Establish or confirm diagnosis

View citations (1)

http://www.ncbi.nlm.nih.gov/books/NBK1205/

Target population:

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:

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:

different method or new sample

Test Comments:

Mutation: PMP22 duplication

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

99% precise

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Formal PT program

PT Provider:
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:

Category: Not Applicable

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Molecular resources:

View PMP22 variations in ClinVar

RefSeqGene

Coriell Institute for Medical Research

Practice guidelines:

EuroGenetest, 2010

Consumer resources:

Genetic Alliance

MalaCards

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

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.