Mucolipidosis Type IV Mutation Detection

CPT 81290
  • Sialolipidosis

Test Details


Carrier testing for mucolipidosis type IV in the Ashkenazi Jewish population. DNA testing may be used to confirm affected status. Prenatal testing is available.

Special Instructions

If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.


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


American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion. No. 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol. 2004 Aug;104(2):425-428.15292027
Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G. Cloning of the gene encoding a novel integral membrane protein, mucolipidin—and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet. 2000 Nov;67(5):1110-1120.11013137
Monaghan KG, Feldman GL, Palomaki GE, Spector EB; Ashkenazi Jewish Reproductive Screening Working Group; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. Genet Med. 2008 Jan;10(1):57-72.18197058
Slaugenhaupt SA. The molecular basis of mucolipidosis type IV. Curr Mol Med. 2002 Aug;2(5):445-450 (review).12125810
Sun M, Goldin E, Stahl S, et al. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet. 2000 Oct 12;9(17):2471-2478.11030752

Additional Information

Mucolipidosis type IV (MLIV) is an autosomal recessive neurodegenerative lysosomal storage disorder associated with growth and psychomotor impairment, 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.

Specimen Requirements

Information on collection, storage, and volume


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

Minimum Volume

3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs


Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T-25 flasks for fetal testing, or Labcorp buccal swab kit

Storage Instructions

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