TEST CODE: 008834
DIAGNOSTIC TEST FOR: HEMATOLOGY
TURNAROUND TIME: 10–21 calendar days (14 days on average)
PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube
ALTERNATE SPECIMENS: DNA or saliva/assisted saliva
Genetic testing for Hematology
Our panels include over 3,900 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
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 be offered to 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.
What are the benefits of genetic testing?
Genetic testing produces information that may help you or your healthcare provider:
– establish or confirm your specific diagnosis
– provide an explanation of the underlying cause of your heart condition
– uncover potential risk of developing an underlying, multi-system condition that affects more than your heart
– make informed medical decisions and provide an opportunity to start risk reduction strategies
– identify other at-risk relatives for whom genetic testing is recommended
– make informed family planning decisions
Genomed’s Hematology panels
CLINICAL AREA: HEREDITARY CANCER
BONE MARROW FAILURE SYNDROMES
– Diamond-Blackfan Anemia Panel
– Dyskeratosis Congenita Panel
– Bone Marrow Failure Syndromes Panel
– Congenital Amegakaryocytic Thrombocytopenia Test
– ELANE-Related Neutropenia Test
– Fanconi Anemia Panel
– GATA1-Related X-Linked Cytopenia Test
– GATA2 Deficiency Test
– WAS-Related Disorders Test
CLINICAL AREA: NON-MALIGNANT HEMATOLOGY
HEREDITARY HEMOCHROMATOSIS
– Hereditary Hemochromatosis Panel
HEREDITARY THROMBOPHILIA
– Hereditary Thrombophilia Panel
– Antithrombin III Deficiency Test
– Protein C Deficiency Test
– Protein S Deficiency Test
Please contact us for the complete list of genes included on the multi-hematology panel and associated conditions.
What are the potential results?
A POSITIVE TEST RESULT CAN:
If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.
A NEGATIVE TEST RESULT:
If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.
AN UNCERTAIN VARIANT TEST RESULT:
In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.
Take action based on your results.
With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:
– increased or earlier screenings
– lifestyle modifications
– early intervention to prevent the onset of disease