FAQs
If my child has a MACS condition, will their children have it too?
Because genes can be inherited in different patterns, if your child has a MAC condition that does not mean their children will also have the condition. Please look at the information sheet on “How genes can be passed on in families”. Your genetics doctor or genetic counsellor will be able to explain the chance of having future generations with a MAC condition if a genetic cause has or has not been found.
Do other people in my family need to have a genetic test?
As we share genetic information with our biological relatives, if a genetic change is found to cause the MAC condition and it has been inherited from one or both parents, other members of your family such as siblings, grandparents, cousins may be interested in knowing this information. They can be referred to their regional genetics service by their GP.
How can I find out about research opportunities?
Your genetics doctor or genetic counsellor will also be able to tell you about any relevant research projects into MAC conditions that you may be eligible to take part in.
If you or your child has whole genome sequencing (WGS) testing and a genetic cause of the MAC condition is not found, you can opt into a research library. This library allows researchers and scientists nationwide and internationally to access yours or your child’s anonymised genetic data. Only specific personnel are allowed access to this anonymised data for the purpose of research and to expand the knowledge of genetics and genetic conditions. If any new information arises which is useful for you and your family from this your genetics doctor or genetic counsellor will contact you. You can also choose to opt out of this research library too.
How can I arrange a genetics appointment?
You can ask to be referred to your regional genetics service by your GP or healthcare professional such as your paediatrician or ophthalmologist. The NHS have a number of Regional Genetics Services across England, Scotland, Wales and Northern Ireland. As genetics centres can cover large geographical regions, you can ask for a face to face, virtual or telephone appointment, although for a first appointment it may be useful to see a genetics doctor in person for a physical examination.
I had genetic testing and a genetic cause was not found, can I be tested again?
Knowledge and technology in genetics changes over time and new tests and information may be available to you now. You can contact your regional genetics team again to ask for an up-to-date appointment.
If I have an appointment with genetics, do I or my child have to have genetic testing?
Having a genetic test is not mandatory. Your genetics doctor or genetic counsellor will talk through with you if genetic testing is appropriate, who is best to test and the pros and cons of having a genetic test. You may decide to have genetic testing now, you may leave the decision to your child when they are an adult, or you may decide not to have genetic testing.
Can I still have an appointment in genetics if I am undecided about genetic testing?
Yes, you can be referred to your regional genetics service and have an appointment with a genetics doctor or genetic counsellors, who are trained healthcare professionals and can talk with you about your concerns and help you decide. Making a genetics appointment does not mean that you have to go ahead with testing. You will not be put under any pressure and if you decide not to have a genetic test at present then the option will still be available to you in future.
How long does a genetic test take?
Different genetic tests take different amounts of time to analyse. For many MAC conditions whole genome sequencing (WGS) is offered, this takes 6 months+. Other tests may be quicker, and your genetics doctor or genetic counsellor will speak to you about the type of test offered and how long it takes to get the results.
I had genetic testing and a genetic cause was not found, can I be tested again?
Knowledge and technology in genetics changes over time and new tests and information may be available to you now. You can contact your regional genetics team again to ask for an up-to-date appointment.
I have been told my child had a MACS condition that was not inherited from parents but may be due to gonadal mosaicism, what is gonadal mosaicism?
In your appointments with genetics, you may have heard this term in terms of why there is a chance a future pregnancy may also have a MACs condition, even if your child’s MAC condition has been found to be from a new genetic change and not inherited from either parent. This is because of the chance there is gonadal mosaicism, where the parent does not have a MAC condition but some of their egg or sperm cells may have the gene change, but not all of them. The chance of gonadal mosaicism is considered low and your geneticist or genetic counsellor will be able to give you the most accurate chance of having another child with a MAC condition if it is found not to have been inherited from either parent.
