Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue
Use
This test is crucial for identifying genetic variants associated with congenital myasthenic syndromes, enabling predictive testing for at-risk family members. It offers a comprehensive genetic evaluation postmortem in cases where congenital myasthenic syndrome is suspected, facilitating risk assessment and genetic counseling for family members. Identifying a disease-causing variant can assist in confirming diagnoses, influencing prognostic decisions, clinical management, and recurrence risk assessments.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all genomic variants due to technical limitations like regions with high GC content or repetitive sequences. False-negative or false-positive results are possible, and deletion-insertion variants above a certain size may be missed. Therefore, negative results do not conclusively rule out a genetic disorder. This test is also not designed to differentiate between somatic and germline variants, and additional testing may be needed if mosaicism or somatic variants are suspected. Sanger confirmation is not usually performed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |