Charcot-Marie-Tooth Neuropathy Type 1A
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000321977.1
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2014-06-02
Last annual review date for the lab: 2021-05-14 Past due LinkOut
At a Glance
Diagnosis
Charcot-Marie-Tooth disease, type IA
Genes (1): Help
PMP22 (17p12)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Medical Genetics Unit
View lab's website
Test Order Code: Help
LV0201
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Test additional service: Help
Custom Prenatal Testing
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:
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: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Test Comments: Help
Mutation: PMP22 duplication
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
100.00%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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