Mucolipidosis Type IV (part of Ashkenazi Jewish FlexPanel)
This test is part of the Ashkenazi Jewish FlexPanel.
PrintThis test is part of the Ashkenazi Jewish FlexPanel.
Mucolipidosis Type IV is characterized by severe psychomotor delay evident by the end of the first year of life and slowly progressive visual impairment during the first decade as a result of a combination of corneal clouding and retinal degeneration. It is an autosomal recessive disorder caused by mutations in the MCOLN1 gene. About 70% of individuals with Mucolipidosis IV are of Ashkenazi Jewish heritage, and the carrier rate in this population is 1 in 96. Ashkenazi Jewish individuals with a negative family history who test negative for the Delta6.4kb and IVS3-2A>G mutations in MCOLN1 have a revised carrier risk of 1 in 1,900.
Analysis of the Delta6.4kb and IVS3-2A>G mutations in MCOLN1 by pyrosequencing. This test can be ordered as part of the Ashkenazi Jewish FlexPanel.
The mutation detection rate in the Ashkenazi Jewish population is 95%.