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Test ID: MCIV    
Mucolipidosis IV, Mutation Analysis, IVS3(-2)A->G and del6.4kb

Useful For Suggests clinical disorders or settings where the test may be helpful

Carrier testing for individuals of Ashkenazi Jewish ancestry


Prenatal diagnosis for at-risk pregnancies


Confirmation of suspected clinical diagnosis of mucolipidosis IV in individuals of Ashkenazi Jewish ancestry

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Mucolipidosis IV is a lysosomal storage disease characterized by mental retardation, hypotonia, corneal clouding, and retinal degeneration. Mutations in the MCOLN1 gene are responsible for the clinical manifestations of mucolipidosis IV. The carrier rate in the Ashkenazi Jewish population is 1/127. Two mutations in the MCOLN1 gene account for the majority of mutations in the Ashkenazi Jewish population: IVS3(-2)A->G and del6.4kb. The detection rate for these 2 mutations is approximately 95%.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation Provides information to assist in interpretation of the test results

An interpretive report will be provided.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This assay will not detect all of the mutations that cause mucolipidosis IV. Therefore, the absence of a detectable mutation(s) does not rule out the possibility that an individual is a carrier of or affected with this disease.


Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.


Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.


In rare cases, DNA alterations of undetermined significance may be identified.


A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

Clinical Reference Provides recommendations for further in-depth reading of a clinical nature

1. Gross SJ, Pletcher BA, Monaghan KG: Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008 Jan;10(1):54-56

2. Bach G: Mucolipidosis type IV. Mol Genet Metab 2001;73(3):197-203

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test