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. Testing for the two founder mutations in the MCOLN1 gene, c.406-2A&gtG (IVS3-2A&gtG) and g.511_6943del (del 6.4kb) detects approximately 95% of MLIV carriers 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 or during pregnancy.

Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.


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 in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top).


Chorionic Villi: 5-10 mg in conical tube with sterile saline OR transport media
Amniotic Fluid: 10 ml in conical tube
Cultured Cells: two confluent T-25 flasks

Additionally, please send:

5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Ordering Information


Ship at room temperature.

Turnaround Time:

10-14 days

CPT Code:


Forms and Brochures

Carrier Screening Requisition and Consent [PDF]
Expanded Ashkenazi Jewish Carrier Screening Brochure [PDF]
Ashkenazi Jewish Carrier Screening Panel