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Carrier testing for mucolipidosis type IV in the Ashkenazi Jewish population. DNA testing may be used to confirm affected status. Prenatal testing is available.
This test has limited value in individuals who are not of Ashkenazi Jewish descent.
Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis
Mucolipidosis type IV (MLIV) is an autosomal recessive neurodegenerative lysosomal storage disorder associated with growth and psychomotor retardation, as well as ophthalmologic 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.
Whole blood, amniotic fluid, chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing), or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)
7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit
3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs
Maintain specimen at room temperature or refrigerate.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab