Neurogenetics DNA Diagnostic Laboratory: Testing for Targeted Mutations of Autosomal recessive mucolipidosis type IV (MCOLN1, MLIV)

  • Phone: 617-726-5721

Test Description

We currently offer targeted DNA mutation analysis of the MCOLN1 gene using PCR amplification and direct DNA sequencing for the major mutation and MLPA analysis for the minor mutation.

Sample Preparation: Sample Preparation (PDF)


Results of DNA analysis will be communicated in a written report to the referring professional.


DNA analysis is appropriate for the study of affected patients, for diagnostic confirmation in a suspected affected patient, and in prenatal testing situations after the family mutation has been identified in the proband.  

Updated 8/2/2012