Mucolipidosis Type IV (MCOLN1), 2 Variants
Also known as: MCOLN1
Use
Mucolipidosis type IV is characterized by early onset of severe psychomotor delay and progressive visual impairment. The test is used for carrier screening or diagnostic testing for individuals of Ashkenazi Jewish descent. The variants tested are g.511_6943del and c.406-2A>G, which show a clinical sensitivity of 95% in Ashkenazi Jewish individuals. The test identifies carriers and assesses the risk of being a carrier.
Special Instructions
Informed consent for genetic testing is required for New York patients. Counseling and informed consent are recommended for genetic testing. New York clients must submit informed consent with the order.
Limitations
Variants other than g.511_6943del and c.406-2A>G will not be detected. Diagnostic errors can occur due to rare sequence variations. The test does not detect all possible pathogenic variants in the MCOLN1 gene. It was developed and its performance characteristics determined by ARUP Laboratories but has not been cleared or approved by the FDA.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 31208-2
- 34658-5
- 34658-5
- 46965-0
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).
Storage Instructions
Transport preferably refrigerated.
Causes for Rejection
Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | 1 month |
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