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Test 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 tissue is the only available specimen. If whole blood is available, consider CMSP / Inherited Congenital Myasthenic Syndrome Gene Panel, Varies.



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)

2. Molecular Genetics: Neurology Patient Information

Secondary ID

620638

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

Specimen Type

Varies

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Refrigerated 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

28 to 42 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81443