Hematology Genetic Panel
Hereditary blood disorder screening
What is this test?
Our Hematology Genetic Panel analyzes over 200 genes associated with inherited blood disorders — from hemoglobinopathies like sickle cell disease and thalassemia to bleeding disorders, bone marrow failure syndromes, and hereditary thrombophilia. A precise molecular diagnosis guides treatment, enables carrier screening for family members, and informs reproductive decisions.
Key Benefits
Goes beyond standard hemoglobin electrophoresis to identify the specific mutations causing thalassemia and other hemoglobin variants, including compound heterozygous states.
Covers all known hemophilia, von Willebrand disease, and platelet function disorder genes — essential for surgical planning and treatment selection.
Inherited bone marrow failure syndromes (Fanconi anemia, Diamond-Blackfan, dyskeratosis congenita) require genetic confirmation for prognosis and transplant decisions.
Essential for couples from Mediterranean, Middle Eastern, South Asian, and African populations who may carry hemoglobinopathy variants.
How It Works
Your hematologist or primary care provider orders the test based on clinical features and preliminary blood work.
A standard EDTA blood tube is collected at your clinic or approved lab. No special preparation is needed.
200+ hematology genes are sequenced with targeted deletion/duplication analysis for the alpha-globin locus and other deletion-prone regions.
Variants are interpreted by molecular geneticists with hematology expertise, integrating genetic findings with CBC, hemoglobin electrophoresis, and coagulation studies.
Report includes molecular diagnosis, carrier status for relevant conditions, recurrence risk, and treatment guidance.
Who should consider this test?
- Individuals with unexplained anemia, bleeding, or clotting problems
- Patients with a family history of thalassemia, sickle cell, or hemophilia
- Couples from populations with high carrier rates for hemoglobinopathies
- Children with bone marrow failure or unexplained cytopenias
- Patients with recurrent venous thromboembolism and suspected hereditary thrombophilia
Conditions Screened
Accuracy & Clinical Evidence
>99% analytical sensitivity for SNVs and small indels; HBA1/HBA2 deletion/duplication analysis included
The ACMG recommends carrier screening for hemoglobinopathies in at-risk populations. Genetic confirmation of bone marrow failure syndromes directly impacts transplant conditioning regimen selection and cancer surveillance protocols. Identified Factor V Leiden or Prothrombin mutations guide anticoagulation decisions.
Scientific Detail
The panel sequences all coding exons and ±20 bp flanking intronic regions. HBA1/HBA2 deletion analysis uses a calibrated read-depth algorithm validated against MLPA results. The HBB gene is analyzed for point mutations and small deletions causing beta-thalassemia. Coagulation factor genes include deep intronic variants known to cause splicing defects (e.g., F8 intron 22 inversion detection).
For Healthcare Providers
This panel covers 200+ hematology genes with specialized analysis for the alpha-globin locus (HBA1/HBA2 deletions via MLPA-equivalent read-depth analysis). Coagulation factor genes receive enhanced coverage of known hotspot regions. Mean sequencing depth exceeds 100x. Reflex to whole genome sequencing is available for unresolved cases.
Important Limitations
- The F8 intron 22 inversion (causing ~45% of severe hemophilia A) requires a specialized assay; our panel screens for it but confirmation by inverse PCR may be recommended.
- Acquired (non-inherited) causes of blood disorders such as myelodysplastic syndrome are not detected by this germline panel.
- Some alpha-thalassemia deletions involving complex rearrangements may require MLPA confirmation.
- Platelet function disorders caused by receptor or signaling pathway defects may have incomplete genetic characterization.
- Variants of uncertain significance may be reported, particularly in large genes like VWF.
Frequently Asked Questions
Test Details
Interested in this test?
Speak with our team to learn more about ordering this test or to get a consultation.
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