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HelpTest ID PCMSP Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue
Ordering Guidance
This test is intended for use when whole blood is not available, and formalin-fixed, paraffin-embedded (FFPE) tissue is the only available specimen. If whole blood is available, consider CMSP / Inherited Congenital Myasthenic Syndrome Gene Panel, Varies.
Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Specimen Required
Specimen Type: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block
Additional Information: Testing will be attempted on blocks of any age but may be canceled if adequate DNA concentration cannot be obtained.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
-Informed Consent for Genetic Testing for Deceased Individuals (T782)
Useful For
Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members
Providing a comprehensive postmortem genetic evaluation in the setting of a congenital myasthenic syndrome
Identifying a disease-causing variant in the decedent, which may assist with risk assessment and predictive testing of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide variants and deletions-insertions (delins) in 28 genes associated with congenital myasthenic syndromes: AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DNM2, DOK7, DPAGT1, GAA, GFPT1, GMPPB, LAMB2, LRP4, MUSK, PLEC, PREPL, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SYT2, VAMP1. See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for congenital myasthenic syndromes.
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS)
Reporting Name
Postmortem Myasthenia PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
28 to 42 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81443
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PCMSP | Postmortem Myasthenia Panel | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 620639 | Test Description | 62364-5 |
| 620640 | Specimen | 31208-2 |
| 620641 | Source | 31208-2 |
| 620642 | Result Summary | 50397-9 |
| 620643 | Result | 82939-0 |
| 620644 | Interpretation | 69047-9 |
| 620645 | Additional Results | 82939-0 |
| 620646 | Resources | 99622-3 |
| 620647 | Additional Information | 48767-8 |
| 620648 | Method | 85069-3 |
| 620649 | Genes Analyzed | 82939-0 |
| 620650 | Disclaimer | 62364-5 |
| 620651 | Released By | 18771-6 |