Additional culture fee may be included if cultured cells are needed.
Carrier testing for mucolipidosis type IV in the Ashkenazi Jewish population. DNA testing may be used to confirm affected status. Prenatal testing is available.
Lavender (EDTA), 10mL
Yellow ACD (A or B)
Yellow (ACD) tube
Polymerase chain reaction (PCR), primer extension and flow-sorted bead array analysis
An interpretive report will be provided
Mucolipidosis Type IV (MLIV) is an autosomal recessive neurodegenerative lysosomal storage disorder associated with growth and psychomotor retardation, as well as opthalmologic abnormalities (OMIM 252650). This disorder primarily occurs among Ashkenazi Jewish individuals.
Two founder mutations, IVS3-2 A>G and 511del6434, account for >95% of the mutant alleles in the Jewish population. MLIV is rare in non-Jewish individuals and the detection rate of mutations is not known and likely to be negligible. DNA test results must be combined with clinical information for the most accurate interpretation.