Mucolipidosis type IV mutation detection-13565
3/20/2023: This test order is currently unavailable. To order a referred alternate, place a MSO order for LabCorp (482370) GeneSeq PLUS
Test info
Sialolipidosis
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.
Specimen
Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting
Lavender (EDTA), 10mL
Amniotic fluid
Chorionic villus sample (CVS) (submission of maternal blood is requiRed for fetal testing)
Yellow ACD (A or B)
Sterile vial/container
Amniotic fluid - 10 mL (minimum 5 mL)
Chorionic villus sample (CVS) - 20 mg (minimum 10 mg)
Yellow (ACD) tube
Sterile vial/container
Molecular Medicare Billing Request
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.
Ambient
Refrigerated
- Frozen specimen
- Hemolysis
- Quantity not sufficient for analysis (QNS)
- Improper container
Performance
If cultured cells are needed, an additional 7-12 days may be required
Polymerase chain reaction (PCR), primer extension and flow-sorted bead array analysis
Clinical and Interpretive info
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.
Billing
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.