DNA Diagnostic Testing for Autosomal recessive mucolipidosis type IV - Full gene sequencing.
REQUIRED FOR ALL ORDERS
- General Requisition Form
- Test Addition Form
- NCL Checklist
- Sample Preparation
- Consent Form
- Medical Release Form
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 of DNA analysis will be communicated in a written report to the referring professional.
DNA analysis is appropriate for the study of affected patients in whom only one mutation is found by target DNA analysis.