How are IBMFS diagnosed?

Different tests are used to diagnose and differentiate IBMFS.

These include:

1. Complete blood count (CBC) test to check for low RBC, WBC and platelet counts.
   
2. Bone marrow aspiration and biopsy. The bone marrow sample is then viewed under a microscope to determine if the bone marrow is working.
3. Genetic testing to identify a causative faulty gene (if any), using a blood, saliva or skin sample.
4. Chromosome breakage test to rule out FA.
5. Telomere length test to exclude other genetic conditions that affect telomeres like DC or TBD.

Who should undergo genetic testing for IBMFS?

You should consider genetic testing if you or your family members meet one or more of the following criteria:

• Personal history of a bone marrow disorder suggestive of IBMFS
  
• Diagnosis of aplastic anaemia (AA), myelodysplastic syndrome (MDS), acute myeloid leukaemia, primary immunodeficiency and other bone marrow disorders below age 40
• Excessive bleeding or toxicities while on treatment for a solid tumour
• Family history of bone marrow disorders, blood problems, cancer or immune issues
• A previously identified faulty gene causing IBMFS in the family

How can your genetic test result help you?

If a faulty gene is identified, it can help guide your options for treatment and management.

1. By identifying which treatments to use/avoid
2. Individuals with Fanconi anaemia (FA) are sensitive to DNA-damaging agents and would require modified treatment regimens
3. Guide the selection of potential donors for bone marrow transplant

If you are currently asymptomatic, it can help guide relevant screening and blood tests to detect bone marrow failure or cancer at its earliest, most treatable stage.

Genetic testing to identify these faulty genes will allow for personalised treatment and management options.