Congenital Myasthenic Syndromes (NGS Panel and Copy Number Analysis)
GTR Test Accession: Help GTR000591306.1
CAP
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2020-08-10
Last annual review date for the lab: 2024-08-09 LinkOut
At a Glance
Diagnosis
Familial infantile myasthenia; Congenital myasthenic syndrome 10; Congenital myasthenic syndrome 11 more...
AGRN (1p36.33); ALG2 (9q22.33); CHAT (10q11.23); CHRNA1 (2q31.1); CHRNB1 (17p13.1) 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
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
NGS331
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:
Conditions Help
Total conditions: 26
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 22
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
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:
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.