Beta-Thalassemia and Hemoglobinopathy via the HBB Gene
Use
This test is intended for individuals with a clinical or suspected diagnosis of beta-thalassemia or sickle cell disease, individuals with a positive newborn screen and/or abnormal hemoglobin gel electrophoresis results, and reproductive partners of individuals with a known pathogenic variant in the HBB gene. It is also applicable for individuals with a family history of beta-thalassemia.
Special Instructions
Test available on Exome or Genome platform; Specimen type varies by platform. STAT testing available with a surcharge, ensuring results within 16 days.
Limitations
The test has not been cleared or approved by the US Food and Drug Administration. It is developed and validated by PreventionGenetics, following CAP and CLIA regulations. The test results may not be interpretable without adequate clinical context and a comprehensive family history.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided