Hematology Diseases
Genetic tests in diseases of the blood and blood-forming organs
Hematology is the branch of science covering diseases of the blood and blood-forming organs. With genetic tests, many hereditary hematological diseases such as Mediterranean anemia, bleeding disorders and a tendency to clotting can be diagnosed, and risk planning for future generations can be carried out with genetic counseling.
Why Are Genetic Tests Necessary in Hematological Diseases?
- In cancer cytogenetics, knowing the primary and secondary chromosome changes in certain cancers is of great importance in confirming the diagnosis, in prognosis, in arranging the treatment protocol, and in monitoring minimal residual disease. Cytogenetic/molecular cytogenetic analyses are required for the classification of leukemia groups defined by the World Health Organization.
- In cases where clinical and laboratory findings support hematological disorders, genetic testing may be required to confirm the diagnosis.
- In individuals with a family history of bleeding disorders, potential risks that may be encountered during pregnancy can be predicted and the necessary precautions taken by determining whether they carry a genetic mutation.
Our Hematology Test Panel
Alpha Thalassemia (HBA1, HBA2 and HBZ genes) (Deletion Analysis – MLPA)
Beta Thalassemia (HBB gene) (Whole Gene – Sequence Analysis)
Bombay Phenotype – Para Bombay Phenotype – H Antigen (FUT1 gene) (Whole Gene – Sequence Analysis)
Del(20q) (FISH)
Diamond – Blackfan Anemia Type 1 (RPS19 gene) (Whole Gene – Sequence Analysis)
Factor 9 Deficiency, X-Linked Thrombophilia (F9 gene) (Whole Gene – Sequence Analysis)
Hemophilia A (F8 gene) (Whole Gene – Sequence Analysis)
Hemophilia B (F9 gene) (Whole Gene – Sequence Analysis)
Hyperhomocysteinemic Thrombosis (CBS gene) (Whole Gene – Sequence Analysis)
Human Platelet Antigen (HPA1, HPA2, HPA3, HPA4, HPA5 and HPA15 genes, a and b alleles)
inv(16)(p13;q22) (CBFB/MYH11) / t(16;16)(p13;q22) (CBFB/MYH11) (Real-Time PCR)
Chimerism (FISH Analysis) (Opposite Sex)
Sickle Cell Anemia (HBB gene) (Sequence Analysis)
t(11;14)(q13;q32) (IgH/CCND1) (FISH)
t(12;21)(p13;q22) (TEL/AML1) (FISH)
t(14;18)(q32;q21) (IgH/BCL2) (FISH)
t(15;17)(q22;q21) (PML/RARA) (FISH)
t(8;21)(q22;q22) (ETO/AML1) (FISH)
t(9;22)(q34;q11.2) (BCR/ABL) (Philadelphia Chromosome) (FISH)