Genetic testing for Bone Marrow Failure Syndromes (BMFS)

Bone Marrow Failure Syndromes are a group of blood disorders. They happen when our bone marrow is not working right. Bone marrow is where our body makes all our blood cells (red, white and platelets). It is the spongy centre found in our major bones

Bone Marrow Failure Syndromes (BMFS) happens when our bone marrow does not make enough working blood cells. Changes in our genes cause BMFS.  

What are genes? 

Genes consist of strings of DNA found in our bodies. DNA holds the code, or specific instructions, to make every person unique. 

Many genes supply the instructions for creating new blood cells. They also supply instructions on how they should work. Changes in these genes (also called ‘variants’ or ‘mutations’) can lead to BMFS. 

How can a gene change happen?  

Changes within our genes can be ‘acquired’ or ‘inherited.’   

Acquired gene changes (variants) 

Environmental factors cause these variants. Environmental factors include exposure to elevated levels of radiation. They also happen by chance. They develop over time in a person in their bone marrow and/or lymph nodes. 

Inherited gene changes (variants) 

You may inherit these variants from a biological parent. Or they may have happened as a new genetic change at the time of conception. They can predispose someone to developing a BMFS at a younger age. 

Testing for gene changes

Knowing the exact genetic cause of bone marrow failure syndrome is valuable. It can help your doctor decide on your treatment and management options. 

Your doctor may recommend testing for one or more of the following reasons:  

  • We suspect your bone marrow disorder symptoms have an inherited genetic cause
  • You have a family history of:  
    • Bone marrow disorders 
    • Blood problems 
    • Cancer 
    • Immune issues
  • Your condition first started at a younger age   
  • We are considering your family as donors for an allogenic stem cell transplant. This is a bone marrow transplant
  • We suspect an acquired cause for your bone marrow disorder, such as aplastic anaemia. In this case your doctor would like to exclude an inherited cause

Sometimes we cannot find the exact genetic cause. If we do find it, it may have other implications for you and/or your family. 

Possible Results from Genetic Testing  

What this may mean  

“Pathogenic” or “likely pathogenic” variant found 

  • We found the underlying germline cause for BMFS. This can guide how your doctor manages the condition
  • We can test family members to find their personal health risk and screening options. This is even if they have no symptoms
  • Options may be available to those planning a pregnancy to avoid passing on the condition
  • Can inform decision making about the suitability of a family member to act as a bone marrow donor

Variant of “uncertain significance” found 

  • The variant may or may not be the cause for the BMFS
  • We may contact you and your doctor for more information
  • We may recommend family member testing. This will help find out the possible significance of this variant
  • Sometimes it is not possible to know the significance of a variant  

“No variants” found 

  • We don’t find any variants connected to BMFS

More information when we find no variants: 

  • Your doctor may suspect an inherited cause. If so, other genetic testing options may be available  
  • Your doctor may suspect an acquired cause. If so, the chance of an underlying inherited cause reduces a lot  

Sometimes we need to test another DNA sample to confirm a genetic result. This may mean having another blood sample, cheek swab (buccal) or a small piece of skin tissue (biopsy) taken.  

Please speak to your doctor if you have any questions about your:

  • Results 
  • Treatment 
  • Care  

Email our Genetic Counsellors at This email address is being protected from spambots. You need JavaScript enabled to view it. for more information about genetic testing.  

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