Hereditary Hemolytic Anemia Panel
Use
This panel is designed for individuals suspected of having hereditary hemolytic anemia, a condition characterized by the abnormal breakdown of red blood cells leading to anemia. Individuals who show symptoms such as abnormal red blood cell morphology on a peripheral blood smear or who have negative results for hemoglobinopathy testing may benefit from this test. The test helps in confirming the diagnosis and in understanding the genetic underpinnings of the disorder, which can guide treatment decisions and family planning.
Special Instructions
The test requires a blood, DNA, buccal, saliva, or tissue sample if using the Exome Platform, and a blood or DNA sample for the Genome Platform. Patients must ensure correct specimen collection and labeling before submission to the lab. STAT testing is available, which expedites the reporting time to 7-16 days instead of the standard 2-3 weeks.
Limitations
This test utilizes NGS technology, which although sensitive, may not detect all genetic variants responsible for hereditary hemolytic anemia. Rare variants and those in non-coding regions might be missed. Additionally, environmental factors and interactions with other genetic variants affecting the phenotype might not be assessed, implying the risk of an incomplete clinical picture based on test results alone.
New York Approved
Methodology
NGS (Targeted)
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