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Clear out junk files and repair common Windows errorsFree Scan →Fix the driver behind crashes, sound loss and screen glitchesFind Drivers →Repair Windows errors before they cause bigger problemsFix Now →A “genetic hit” is an informal way to describe a genetic test finding, not a diagnosis or proof that a particular person has a disease-causing mutation. The exact gene, variant and clinical context matter. A finding may help explain an MND diagnosis and inform family discussions, but it may also be uncertain; a negative result does not rule out a genetic contribution. Anyone interpreting a result or considering testing should discuss it with an MND clinician and a genetic counsellor.
What can a genetic test tell you?
Genetic testing is interpreted alongside a clinical diagnosis. It can identify a known genetic change associated with MND, which may help explain why someone developed the condition and may be relevant to biological relatives. A genetic finding by itself does not diagnose MND or predict how the disease will progress.
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The Motor Neurone Disease Association says that up to 1 in 10 people with MND have inherited MND, in the context of a family history. It also says that known changed genes account for around 70% of inherited or familial cases. That 70% is an estimate about known causes in familial MND, not the sensitivity of an individual test; testing may not identify a known cause in every family. Motor Neurone Disease Association: Inherited MND
Results need careful interpretation. A change may increase risk without making disease certain, and an unclear result should not be labelled as the cause. The specific variant classification, clinical picture and family history are essential to understanding what a report means.
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Diagnostic and predictive testing are different
| Diagnostic testing | Predictive testing |
|---|---|
| For someone already diagnosed with ALS/MND. It looks for known genetic changes that may be linked to their condition. | For an unaffected relative who may be at risk because a particular genetic change has already been identified in the family. |
| May help explain the diagnosis and inform discussions with relatives. | Can establish whether the relative carries the known family change, but cannot say whether or when they will develop MND. |
| Discuss the test and possible uncertainty with the treating clinician; exact access and pathways depend on location. | Genetic counselling is important before testing, and is usually offered before and after it, to help weigh choices and family implications. |
The MND Association describes diagnostic testing as testing after a clinical diagnosis and says results may not always be clear. The International Alliance of ALS/MND Associations emphasizes that predictive testing cannot tell an unaffected person if or when ALS/MND will develop. Counselling helps people understand what testing can and cannot show; it does not oblige anyone to proceed. Motor Neurone Disease Association: Inherited MND; International Alliance of ALS/MND Associations: Genetic Counselling & Testing
Which genes are commonly associated with inherited MND?
The MND Association lists C9ORF72, SOD1, TARDBP (also known as TDP-43) and FUS among the more commonly reported genes linked to inherited MND. Its 2025 page gives these approximate shares:
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| Gene | Association estimate |
|---|---|
| C9ORF72 | Around 4 in 10 cases |
| SOD1 | 2 in 10 cases |
| TARDBP | Up to 5 in 100 cases |
| FUS | Up to 5 in 100 cases |
These are the Association’s approximate gene-specific estimates, not personal odds and not a prediction for an individual family. The figures use different wording and may reflect different definitions or evidence periods; they should not be combined into a single individual risk calculation. Other rare genes are also implicated. Motor Neurone Disease Association: Inherited MND
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Could family members be at risk?
A confirmed familial genetic change can have implications for biological relatives, but risk depends on the particular variant and the family context. A family history does not mean that every relative—or a person’s children—will definitely develop MND. Even when an unaffected relative carries a known changed gene, predictive testing cannot indicate whether or when symptoms will begin.
If a person with MND is considering testing, or an unaffected relative is weighing predictive testing, a genetic counsellor can explain the possible outcomes and help the family consider who wants to know what. NICE advises that information about diagnosis, prognosis and management should come from a consultant neurologist with up-to-date MND expertise, taking account of how much information the person wants and their preferences about family involvement. NICE guideline NG42: Motor neurone disease—assessment and management
Independent reader supportYour contribution helps us test, update, and keep practical guides available for everyone.How testing access works in England
NHS England’s Genomics Education Programme says people with confirmed MND are eligible for genomic testing under its criteria. The described R460 early-onset ALS panel uses whole-genome sequencing, with analysis limited to genes known to cause adult-onset neurodegenerative conditions, and includes short tandem repeat testing for C9orf72. Clinicians should check the live National Genomic Test Directory when ordering because eligibility and test details can change. The programme notes that arrangements differ in Wales, Scotland and Northern Ireland, so England’s pathway should not be assumed to apply elsewhere. NHS England Genomics Education Programme: Presentation—Clinical suspicion of motor neurone disease
Testing is part of a clinical pathway, not a stand-alone consumer verdict. A clinician can explain which test is relevant and how results will be interpreted. If a report names a gene or variant, ask the MND clinician and genetic counsellor to explain its classification and what it means for the person and relatives before drawing conclusions.
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What to ask about a result
- Which exact gene and variant does the report identify, and how is the variant classified?
- Does the finding explain the MND diagnosis, indicate increased risk, or remain uncertain?
- What does the result mean—and not mean—for biological relatives?
- If a relative is considering predictive testing, what counselling and support are available?
- Is the test pathway and panel appropriate for the person’s location and circumstances?
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