The Blueprint Genetics Anemia Panel is a 68 gene panel. This panel is ideal for: Patients suspected to have hereditary anemia who have had HBA1 and HBA2 variants excluded as the cause of their anemia Patients suspected to have hereditary anemia who are not suspected to have HBA1 and HBA2…Read more
HematologyWe offer comprehensive genetic diagnostics for a broad range of hematological disorders varying from bone marrow failure to specific disorders affecting various cell populations and factors involved in hemostasis. These include congenital defects in neutrophils, inherited disorders affecting platelets and platelet function, and a broad spectrum of red blood cell disorders.
Genetic testing for hematology
Depending on the underlying defect and the affected hematological cell populations, symptoms in hematological conditions can vary from bleeding disorders to severe anemia, or may cause significant immunosuppression. Furthermore, the inherited defects in coagulopathy may also cause thrombophilia, increasing the risk of thrombosis during childhood. All genetic defects that cause bone marrow failure lead to severe immunosuppression, possibly necessitating stem cell transplantation as a curative choice of treatment.
What genetic diagnostics can offer patients with hematological diseases
An accurate genetic diagnosis is necessary to confirm the diagnosis of certain hematological malignancies and to find the optimal treatment for affected patients. Establishing the underlying genetic defect and inheritance pattern further allows family member testing to identify at-risk relatives. Also, a genetic diagnosis can help in family planning.
A selection of our hematology panels
The Blueprint Genetics Comprehensive Hematology Panel is a 175 gene test offering comprehensive genetic diagnostics for a broad range of hematological disorders varying from bone marrow failure to specific disorders affecting different cell populations or factors involved in hemostasis. Due to one or more regions of segmental duplication, this…Read more
Find the right test for your patient
Published on July 21, 2017
Blueprint Genetics is committed to provide the highest quality genetic testing for our customers. Since quality is something that can be proven, we are proud to transparently share our full set of quality metrics with you. To be able to show the different aspects of quality in genetic testing, we…Read more
Published on June 15, 2017
There is a significant completion to drive down the price and TAT of genetic diagnostics. To survive in this competition, laboratories have to either rigorously innovate or then make compromises in quality and performace standards. In an untransparent diagnostic environment, health care professionals have a hard time to evaluate optimal and best testing for their patients.
Looking for transparency Dr. Tero-Pekka Alastalo discusses how sequencing technologies and the chosen strategy in a lab can define quality and yield, highlighting bioinformatics and interpretation as being the biggest challenges in the current market. He also discusses what can make a lab transparent in its services and what is…See more