Mucolipidosis Type IV Mutation Analysis
Use
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
For fetal testing, call Quest Genetic Counselor (1‑866‑436‑3463) prior to submission; documentation of parental carrier status is required, and a Maternal Cell Contamination Study (STR Analysis) must be ordered in conjunction with fetal testing using a separate maternal EDTA blood tube.
Limitations
Not provided.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 34658-5
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
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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