CMT Advanced Evaluation - Comprehensive
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000512806.3
NERVOUS SYSTEMINHERITED DISEASE
Last updated in GTR: 2017-12-12
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Predictive
Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease X-linked dominant 1; Charcot-Marie-Tooth disease axonal type 2C more...
DNM2 (19p13.2); EGR2 (10q21.3); FGD4 (12p11.21); FIG4 (6q21); GARS1 (7p14.3) more...
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Test Order Code: Help
4001
How to Order: Help
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 31
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 23
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy are =99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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