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GeneSeq® Neuro: Limb-Girdle and Emery-Dreifuss Muscular Dystrophies
Clinical Genetic Test
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offered by
MNG Laboratories (Medical Neurogenetics, LLC.)
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GTR Test Accession: Help GTR000613403.1
MUSCULOSKELETALNERVOUS SYSTEMINHERITED DISEASE ... View more
Registered in GTR: 2024-10-23
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Last annual review date for the lab: 2024-08-09 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (2): Help
Emery-Dreifuss muscular dystrophy; Limb-girdle muscular dystrophy
Genes (43): Help
ANO5 (11p14.3); CAPN3 (15q15.1); CAV3 (3p25.3); COL6A1 (21q22.3); COL6A2 (21q22.3) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
MNG Laboratories (Medical Neurogenetics, LLC.)
View lab's website
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Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Licensed Physician
Test Order Code: Help
630762
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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.
Test service: Help
Custom Sequence Analysis
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 43
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Greater than 99% sensitivity and specificity based on CAP proficiency testing
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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