Mucolipidosis Type IV (MCOLN1), 2 Variants
Ordering Recommendation

Carrier screening or diagnostic testing for mucolipidosis type IV for individuals of Ashkenazi Jewish descent.

Polymerase Chain Reaction/Fluorescence Monitoring
Tue, Fri
5-10 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Specimens collected in sodium heparin or lithium heparin tubes. 
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month 
Reference Interval
By report
Interpretive Data
Background information for Mucolipidosis, Type IV (MCOLN1), 2 Variants:
Mucolipidosis type IV is characterized by early onset of severe psychomotor delay and progressive visual impairment due to corneal clouding and retinal degeneration. Affected individuals may occasionally learn to say a few words or walk independently. While most affected individuals remain neurologically static until age 30, about 15 percent will display neurological degeneration.
1 in 63,000 Ashkenazi Jewish individuals.
Autosomal recessive.
MCOLN1 pathogenic variants.
Variants Tested:
g.511_6493del and c.406-2A>G.
Clinical Sensitivity:
95 percent in Ashkenazi Jewish individuals, 6 to 10 percent in other ethnicities.
Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Variants other than g.511_6493del and c.406-2A>G will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
0051450Mucolipidosis IV (MCOLN1), Allele 134658-5
0051451Mucolipidosis IV (MCOLN1), Allele 234658-5
0051452Mucolipidosis IV (MCOLN1), Interp46965-0
2001329Mucolipidosis IV (MCOLN1), Specimen31208-2
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