Alpha Thalassemia Deletion/Duplication and Constant Spring Panel
Use
The Alpha Thalassemia Deletion/Duplication and Constant Spring Panel is intended for individuals presenting clinical features or a suspected diagnosis of alpha thalassemia. It is particularly suited for individuals exhibiting Hb patterns consistent with HbH or Hb Bart through HPLC or capillary electrophoresis, and for reproductive partners of individuals harboring known pathogenic variants in the HBA1 or HBA2 genes. This test aids in providing a genetic confirmation and will assist in further management and genetic counseling.
Special Instructions
The test includes the use of a Multiplex Ligation-Dependent Probe Amplification Assay to detect deletions and duplications associated with alpha thalassemia, including the Constant Spring variant. For STAT testing, a surcharge of 25% is applied, ensuring prioritized processing.
Limitations
This test does not guarantee the detection of all potential variants associated with alpha thalassemia. It primarily targets known deletions, duplications, and the Constant Spring variant. Rare or novel mutations outside the scope of this assay may not be identified. Direct comparisons with other methodologies should be approached cautiously due to possible differences in coverage and sensitivity.
New York Approved
Methodology
Other
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