Classic view of this page
Congenital Myopathies (NGS Panel and Copy Number Analysis)
Clinical Genetic Test
Help
offered by
MNG Laboratories (Medical Neurogenetics, LLC.)
View lab's test page
LinkOut
GTR Test Accession: Help GTR000591309.1
CAP
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Registered in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2024-08-09 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (8): Help
Actin accumulation myopathy; Bethlem myopathy 1A; Central core myopathy more...
Genes (55): Help
ACTA1 (1q42.13); ADGRG6 (6q24.2); ALG2 (9q22.33); BIN1 (2q14.3); CCDC174 (3p25.1) 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
View lab's test page
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Licensed Physician
Test Order Code: Help
NGS413
How to Order: Help
Identify the test you need with our test name or test code search, and print the test requisition form.

Request the appropriate sample collection kit from MNG, or use your own for sample collection.

Ship us the sample(s) overnight—free inbound and return FedEx Priority Overnight® shipping …
View more
Order URL
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:
Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 8
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 55
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
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.