Bone Marrow Failure Syndromes (BMFS) are a group of disorders where the ability of the bone marrow to carry out effective haematopoiesis is impaired, result of intrinsic stem cell/progenitor defects. They are a rare yet clinically relevant cause of neonatal haematological and non-haematological manifestations with an increased risk of malignancy. Some BMFS may present with cytopenias in the neonatal period whereas others may present only with congenital physical abnormalities and progress to pancytopenia later in life. BMFS can be inherited or acquired. Morbidity and mortality from pancytopenia are caused by low levels of mature blood cells. Advancements in genetic analysis has provided a better understanding of normal hematopoiesis and how this is disrupted in patients with bone marrow failure.
The Igenomix Bone Marrow Failure Syndrome Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of pancytopenia ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Bone Marrow Failure Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Weakness and fatigue
- Family history of BMFS
- Congestive heart failure
- Shortness of breath
- Bruising on the skin
- Gum bleeding
- Fever, cellulitis, pneumonia or sepsis
- Physical developmental abnormalities
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of stem cell transplant, recurrent transfusions, medical treatment to prevent complications and surveillance for malignancy.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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