Search
genetic screening
Targeted mutation panels (ethnicity-based)
- cystic fibrosis (CF)
- spinal muscular atrophy (SMA)
- fragile X (FMR1)
- hemoglobinopathies (HBA1 & HBA2)
- screen for hemoglobinopathies/thalassemia
- Ashkenazi Jewish diseases (Bloom syndrome, Canavan disease, familial dysautonomia, Tay-Sachs disease)
Related
genetic counseling
genetic disease
General
screening
References
- ARUP Consult: Carrier Screening for Genetic Disorders
The Physician's Guide to Laboratory Test Selection & Interpretation
https://arupconsult.com/content/carrier-screening-genetic-disorders