Mucolipidosis type IV mutation detection

Alphabetical Test listing

Mucolipidosis type IV mutation detection-13565

Mucolipidosis type IV mutation detection

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.

EDTA whole blood
7.0 mL
3.0 mL

Lavender (EDTA), 10mL



ACD whole blood
Amniotic fluid
Chorionic villus sample (CVS) (submission of maternal blood is requiRed for fetal testing)

Yellow ACD (A or B)


Sterile vial/container

ACD whole blood - 7 mL (minimum 3 mL)
Amniotic fluid - 10 mL (minimum 5 mL)
Chorionic villus sample (CVS) - 20 mg (minimum 10 mg)

Yellow (ACD) tube

Sterile vial/container




  • Frozen specimen
  • Hemolysis
  • Quantity not sufficient for analysis (QNS)
  •  Improper container
LabCorp RTP (511386): R-LC
2 times per week, or as needed
8 - 15 days
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


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.

Result 34658-5