Mucolipidosis Type 4: MCOLN1 Recurrent Mutations
ML IV; ML4; Sialolipidosis
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
5-10 mL EDTA or ACD 0.5 mL EDTA (neonate); minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
Special Instructions for Genome Diagnostics Samples
If sample shipment >48 hours, ship on ice.
Mucolipidosis IV (MLP4) is a neurodegenerative lysosomal storage disorder characterized by severe psychomotor delay, ophthalmological abnormalities including corneal clouding, retinal degeneration and strabismus, elevated blood gastrin and iron deficiency. Most patients present at 2-3 years of age and remain in an apparent steady-state for the next 2-3 decades. MLP4 is an AR disorder caused by mutations in the MCOLN1 gene, located on chromosome 19 (19p13.3). Two mutations in the MCOLN1 gene accounrt for 95% of the mutations seen in AJ individuals affected with MLP4.
See related information sheet: Ashkenazi Jewish Screening Panel
Mucolipidosis Type 4 (part of the Ashkenazi Jewish screening panel)
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