Charcot-Marie-Tooth Disease
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000520409.14
Last updated in GTR: 2021-02-05
Last annual review date for the lab: 2021-02-05 Past due LinkOut
At a Glance
Diagnosis; Pre-symptomatic
Charcot-Marie-Tooth disease type 4F; Amyotrophic lateral sclerosis type 4; Autosomal dominant Charcot-Marie-Tooth disease type 2M; ...
AARS1 (16q22.1), ABHD12 (20p11.21), AIFM1 (Xq26.1), ARHGEF10 (8p23.3), ARSA (22q13.33), ...
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
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Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
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
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Sequence Analysis
Result interpretation
Test additional service: Help
Custom mutation-specific/Carrier 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: 89
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 74
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
MiSeq Personal Sequencer
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variations are first classified based on frequency (according to databases such as 1000 Genomes and GnomAD). Rare variations are classified as VUS if: 1) the variation has not been reported previously and available information (effect prediction models, conservation scores and patient data) does not allow other classification; 2) there are … View more

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Confirmation: Help
Pathogenic/likely pathogenic findings are confirmed using additional technologies.
Test Comments: Help
NGS panel covers the analysis of the entire coding region of 78 genes and disease associated non-coding variants. CNV analysis is included in the panel.
Del/dup analysis of the following genes: EGR2, GARS, GDAP1, GJB1, HSPB1, HSBP8, KIF1B, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX, RAB7A, SBF2, SH3TC2, SPTLC1.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Technical accuracy >99,8%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Software used to interpret novel variations Help
Alamut® Visual (includes splice site prediction tools, SIFT, PolyPhen2, MutationTaster, frequency data).

Laboratory's policy on reporting novel variations Help
Novel variations are interpreted in the context of the patient’s data as well as information known about the gene that it was found in. If possible association with patient’s phenotype is suspected, novel variations are reported with a short description of the possible effect and population frequencies.
Recommended fields not provided:
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.