Casandra
Casandra Test Code MC50782Version 1 (DRAFT)
Performing Lab
CNBP DNA Test (DM2)
Clinical Use
Order TestUse
Detects CCTG repeat expansions in the Zinc Finger Protein 9 (ZNF9) gene. This test is useful for diagnosing Myotonic Dystrophy Type 2 (DM2), which presents with a range of symptoms that may include cataracts, muscle wasting, cardiac complications, ptosis, and myotonia.
Special Instructions
Not provided.
Limitations
This test is specifically designed to detect CCTG repeat expansions in the ZNF9 gene and may not detect other genetic causes of myotonic dystrophy.
Test Details
Methodology
PCR-based (Long Read Sequencing)
Biomarkers
ZNF9
GeneCCTG Repeat Expansion
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
14-32 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
8 mL
Minimum Volume
6 mL
Container
Lavender top (EDTA)
Collection Instructions
Draw blood in a lavender top (EDTA) tube(s). Invert several times to mix. Send ambient.
Storage Instructions
Send ambient.
Causes for Rejection
Hemolysis: OK; Lipemia: OK; Icterus: OK
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 10 days |
| Refrigerated | 10 days |