Beta-Thalassemia and Hemoglobinopathy via the HBB Gene

Casandra

Casandra Test Code PG28599Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 7693

Beta-Thalassemia and Hemoglobinopathy via the HBB Gene

Clinical Use

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.

Test Details

Methodology

NGS

Biomarkers

This component involves next-generation sequencing with copy number variation analysis to identify mutations and variants in the HBB gene, which are characteristic of beta-thalassemia and hemoglobinopathies.

NGS with CNV