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Bleeding Disorders

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Bleeding Disorders
Bleeding disorders include a number of diseases that prevent proper blood clotting. Causes include abnormal platelet count, volume, morphology, function, and impaired coagulation. Proper clotting is critical for healing. If left untreated, uncontrolled bleeding due to a bleeding disorder can cause painful long-term effects like severe joint damage or viral infections. Obtaining a diagnosis allows for some bleeding disorders to be treated with the use of clotting factor concentrates or topical products applied in a hospital setting.

Genetic Testing for Inherited Bone Marrow Failure

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Bone Marrow Failure
Bone marrow failure occurs when blood cells, including red cells, white cells and platelets are not produced in a sufficient quantity or the cells that are produced are defective or damaged. The overall decrease in mature blood cells is called cytopenia, and bone marrow failure can be associated with single (e.g. thrombocytopenia) or multiple lineage (e.g. thrombocytopenia, neutropenia, anemia) cytopenias. In addition to cytopenias, bone marrow failure is also associated with an increased risk for hematologic malignancies such as myelodysplastic syndrome and acute myeloid leukemia.

Hereditary Heart Disease

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In 1964, President Lyndon B. Johnson proclaimed February American Heart Month as a way to increase awareness of heart diseases. Heart disease, also known as cardiovascular disease, is a broad term that describes a phenotypically and genetically heterogeneous group of diseases that impair the function or structure of the heart or both. Heart disease is the leading cause of death worldwide, accounting for 31% of all deaths (Cardiovascular Diseases). Environmental and behavioral factors are important aspects in the development of cardiovascular disease, but heredity plays a role as well.

PreventionGenetics Introduces Rapid PGxomeⓇ Whole Exome Sequencing Test for $2290

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Marshfield, WI - PreventionGenetics is excited to introduce Rapid PGxome to their menu of whole exome sequencing (WES) tests. Rapid PGxome is WES with an expedited average turnaround time of 14 days and a cost starting at $2290. In cases with a clear positive result, a preliminary report may be issued as soon as six days. Rapid PGxome is ideal for situations where a rapid genetic diagnosis is essential, including patients with neonatal, infantile or early childhood onset severe disorders.

President's Corner - Clinical DNA Banking

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DNA Banking is probably the most underappreciated and underutilized component of Genomic Medicine. In the United States alone, about 7,500 people die each day without leaving a DNA specimen. This is a terrible loss.