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HelpOrderable Name CSTB CSTB Gene, Repeat Expansion Analysis, Varies
Ordering Guidance
This test only detects dodecamer repeat expansions. If testing for both dodecamer repeat expansions and other CSTB variants is requested, order a custom gene panel for the CSTB gene. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Forms
1. New York Clients-Informed consent is required. Please 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)
2. Molecular Genetics: Neurology Patient Information
3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.
Useful For
Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy
Identifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for predictive testing of at-risk family members
Impacting patient treatment and management through the identification of a specific underlying etiology for epilepsy (eg, directing appropriate use of anti-epileptic drugs and other treatment modalities)
Special Instructions
Method Name
Polymerase Chain Reaction (PCR)
Specimen Type
VariesSpecimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Reject Due To
All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.Reference Values
Normal: <5 dodecamer repeats
Repeat Size of Uncertain Significance: 5-29 dodecamer repeats
Full Penetrance Expansion: >29 dodecamer repeats
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
28 to 42 daysCPT Code Information
81188
Testing Algorithm
For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm