Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Mucolipidosis Type IV

Mucolipidosis Type IV

Test Description:
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder that is inherited in an autosomal recessive manner. It is characterized by a variable degree of growth and psychomotor retardation, ophthalmologic abnormalities and severe mental retardation. Individuals of Ashkenazi Jewish descent account for 80% of the patients affected with MLIV with two founder mutations [c.406-2A>G (IVS3-2A>G), g.511_6943del (del 6.4kb); MCOLN1 gene]. Testing for these two mutations has a detection rate of approximately 95% in this population. The carrier frequency in the Ashkenazi Jewish population is estimated to be 1 in 89. The American College of Medical Genetics recommends that carrier screening for MLIV be offered to individuals with at least one grandparent of Eastern European (Ashkenazi) Jewish ancestry before/during pregnancy.

1. Bargal R et al. 2000. Identification of the gene causing mucolipidosis type IV. Nat Genet 26: 118-123.
2. Bassi MT et al. 2000. Cloning of the gene encoding a novel integral membrane protein, mucolipidin, and identification of the two founder mutations causing mucolipidosis type IV. Am J Hum Genet 67: 1110-1120.
3. Sun M et al. 2000. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet 9:2471-2478.
4. Scott, S.A., Edelmann, L., Liu, L., Luo, M., Desnick, R.J. and Kornreich, R. Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish Genetic Diseases. Hum. Mutat. 31:1-11, 2010.

Specimen Requirements:
Two 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.

Shipping: Send at room temperature.

Turnaround Time: 10-14 days

CPT Codes: 83891, 83892x2, 83900, 83912, 83914x2

Consent and Requisition Forms: Carrier Screening Requisition and Consent [PDF]

Additional Information: Jewish Genetic Screening Brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Test Panel

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.