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Paediatric Laboratory Medicine

Mucolipidosis Type 4: MCOLN1 Recurrent Mutations

Clinical Significance

Mucolipidosis IV (MLP4) is a neurodegenerative lysosomal storage disorder characterized by severe psychomotor retardation, 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.

Test Name

Mucolipidosis Type 4: MCOLN1 Recurrent Mutations

Alternate Name/ Synonym

  • ML IV
  • ML4
  • Sialolipidosis

Gene Name

  • MCOLN1

Test Code

MLP4

Division

Molecular Genetics

Method

Targeted analysis of recurrent mutations

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)

Protein

Mucolipin 1

Disease/Condition

Mucolipidosis Type 4 (part of the Ashkenazi Jewish screening panel)

Specimen Type

Blood; gDNA.

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD 0.5 mL EDTA (neonate); minimum 10 ug in 100 uL low TE (pH8.0)

Storage/Transportation

Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes

81479

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Interpretation

Interpretation is provided in report