DNA Diagnostic Testing for Autosomal recessive mucolipidosis type IV - Full gene sequencing.

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Test Description

We currently offer DNA mutation analysis of the MCOLN1 gene using PCR amplification and direct DNA sequencing for the entire coding region of the MCOLN1 gene.

Sample Preparation: Sample Preparation (PDF)

Results

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

Reason

DNA analysis is appropriate for the study of affected patients in whom only one mutation is found by target DNA analysis.  

 

Updated 8/2/2012