Invitae Myotonia and Paramyotonia Congenita Panel
GTR Test Accession: Help GTR000553794.2
NYS CLEP
INHERITED DISEASENERVOUS SYSTEMMETABOLIC DISEASE ... View more
Last updated in GTR: 2021-12-05
Last annual review date for the lab: 2023-10-10 Past due LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Therapeutic management
Congenital myotonia, autosomal dominant form; Congenital myasthenic syndrome 16; Congenital myotonia, autosomal recessive form more...
Genes (2): Help
CLCN1 (7q34); SCN4A (17q23.3)
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
The Invitae Myotonia and Paramyotonia Congenita panel analyzes 2 genes …
Not provided
Not provided
Ordering Information
Offered by: Help
Labcorp Genetics (formerly Invitae)
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
03375
How to Order: Help
Tests can be ordered online or by submitting a paper requisition form.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 8
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Therapeutic management
Target population: Help
The Invitae Myotonia and Paramyotonia Congenita panel analyzes 2 genes associated with non-dystrophic forms of myotonia. These genes were curated based on the available evidence to date to provide a comprehensive test for myotonia and paramyotonia congenita.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations: Help
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number: 8884
Status: Approved
Additional Information

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