Neurogenetics DNA Diagnostic Laboratory: Testing for X-linked Fabry disease (GLA, Fabry)
- Phone: 617-726-5721
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
Test Description
We currently offer DNA mutation analysis of the GLA gene using PCR amplification and direct DNA sequencing of the coding exons. Hemizygous mutations in males and heterozygous mutations in females in the gene have been described in patients with Fabry disease.
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 8/2/2012
