DNA Diagnostic Testing for Autosomal recessive mucolipidosis type IV - Full gene sequencing.
REQUIRED FOR ALL ORDERS
FORMS
- General Requisition Form
- Test Addition Form
- NCL Checklist
- Sample Preparation
- Consent Form
- Medical Release Form
CREDENTAILS
- CLIA #22DO883928
- New York State #CQP4866
- CLIA Certificate
- NY License, Sims
- NY License Xin
- Maryland License
Lab Home | Services | Fee Schedule
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
