Alport Syndrome Panel
NY Approved
Test Overview
Clinical Utility
- Molecular confirmation of a clinical diagnosis
- Development of appropriate evaluation and management plan
- Differentiation between X-linked and autosomal recessive or dominant forms of the disease
- Evaluation of family members as possible donors for kidney transplantation
- Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
- Genetic counseling, especially recurrence risk
Test Details
Genes
CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
Conditions
- Alport Syndrome
Lab Method
- Deletion/Duplication Analysis
- Next-Gen Sequencing
Ordering Information
Resources
Test Documents
Billing
Targeted Variant Testing