DNA Diagnostic Testing for Mutations in the SCN4A gene (SCN4A, HYPP, HOPP-2, NormoPP, PMC)
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 full gene mutation analysis of the SCN4A gene using PCR amplification and direct DNA sequencing of the entire coding regions (24 exons). This analysis can be ordered as a stand-alone test or a second-tier test for HYPP, HOPP-2, NormoPP and PMC targeted mutation analysis.
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, for diagnostic confirmation in a suspected affected patient, and in prenatal testing situations after the family mutation has been identified in the proband.
Updated 8/6/2012
