Muscular Dystrophy, Myopathy and Myasthenia Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000604163.1
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Registered in GTR: 2023-03-17
Last annual review date for the lab: 2024-03-14 LinkOut
At a Glance
Diagnosis
Muscular dystrophy; Congenital myasthenic syndrome; Myopathy
ACTA1 (1q42.13); AGRN (1p36.33); ANO5 (11p14.3); B3GALNT2 (1q42.3); B4GAT1 (11q13.2) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
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: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 91
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:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy >= 97.5%
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

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.