Medical Genetics

Mucolipdosis IV Carrier Testing

Mucolipidosis IV is a neurodegenerative lysosomal storage disorder characterized by severe psychomotor delay and progressive visual impairment. The disorder is caused by mutations in the MCOLN1 gene. The carrier risk for mucolipidosis IV in the Ashkenazi Jewish population is 1 in 127.

Mucolipidosis IV carrier testing by DNA analysis is offered as part of a genetic screening panel for the Ashkenazi Jewish population which includes Niemann-Pick disease type A, Bloom syndrome, and glycogen storage disease type 1A. See Ashkenazi Jewish Genetic Screening - Panel 2 for testing information.

Indications for Testing

Carrier screening

Gamete donors

Testing Methodology

Direct mutation analysis: Our laboratory utilizes Amplification Refractory Mutation System (ARMS) technology is used to screen for 2 mutations relevant to the Ashkenazi Jewish population. The 2 mutations are 511del6434 and IVS3-2A>G.

Sensitivity

The carrier detection rate for DNA analysis of mucolipidosis IV in the Ashkenazi Jewish population is 95%.

This carrier screening test is most appropriate for individuals of Ashkenazi Jewish descent. This test may not be appropriate for individuals from other ethnic backgrounds. The sensitivity of this carrier screen in non-Jewish populations has not been established. This test is not appropriate for fetal diagnosis or diagnosis of individuals with clinical phenotype.

Specimen Requirements

Blood: 5 cc whole blood collected in a purple top (EDTA) or yellow top (acid citrate dextrose) vacutainer tube. Do not centrifuge or freeze. Sample may be refrigerated or stored at room temperature.