Casandra
Casandra Test Code QD87682Version 1 (DRAFT)
Performing Lab
Mucolipidosis Type IV Mutation Analysis
Clinical Use
Order TestUse
This test is used for mutation analysis related to Mucolipidosis type IV, aiding in carrier screening particularly in Ashkenazi Jewish individuals and fetal diagnostic testing. It targets pathogenic variants in the MCOLN1 gene.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
NGS (Targeted)
Biomarkers
MCOLN1
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
LOINC Codes
Order Codes
- 34658-5 - MCOLN1 gene Mut Anl Bld/T
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
4 mL (3 mL minimum)
Minimum Volume
Not provided
Container
EDTA (lavender or royal blue‑top), ACD (yellow‑top), or sodium or lithium heparin (green‑top) tube
Collection Instructions
Do not hold specimen; forward to laboratory when specimen arrives.
Storage Instructions
Store and ship room temperature immediately. Do not freeze.
Causes for Rejection
Do not reject
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
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