Genetic conditions
Testing decided by clinical assessment — and the judgement to read the result.
Some children's development is shaped by a difference in their genes — a change in a single gene, or in a chromosome. Down syndrome and Fragile X are among the better known, but there are many, and some are rare enough that few families have heard of them before the result arrives.
A genetic result explains a cause. It does not describe your child, and it does not set a ceiling. Two children with the same diagnosis can be very different from one another. What a diagnosis usefully does is narrow down what to watch for, what to check, and where support is most likely to help.
Genetic testing has changed a great deal, and no single test sees everything. Karyotyping, the oldest, looks at the overall structure of the chromosomes and misses a great deal. Chromosomal microarray finds pieces of chromosome that are missing or duplicated, and is particularly useful where a child has physical features suggesting a syndrome. Sequencing reads the genes themselves — and can miss a change in the structure of a chromosome that an array or a karyotype would have shown. Each has blind spots, which is why a normal result does not always mean there is nothing to find.
Which test is worth doing, if any, is a clinical judgement rather than a menu choice, and a laboratory report is not a diagnosis on its own — it has to be interpreted against the child in front of you. At Geniuslane that judgement starts with a developmental paediatrician's assessment and is discussed by the clinical team with Dr Rahul Bharat before anything is arranged. It follows UK NICE guidance, which is clear that investigations are not a routine part of a diagnostic assessment but something to consider on clinical grounds — physical examination, the child's own profile, and features such as dysmorphism or a learning disability. Where a test is arranged we work closely with genetics services and genetic counselling, so a result arrives with someone to explain it.
When a genetic cause may be considered
- •Delay affecting several areas of development at once, rather than one
- •Development that has plateaued, or skills gained and then lost
- •Delay alongside seizures, or heart, hearing or vision differences
- •Feeding or growth difficulties from early on
- •Features your paediatrician has noticed and wants to look into
Every child is different, and noticing one or two of these doesn't mean your child has genetic conditions. If you're unsure, an assessment brings clarity.
How Geniuslane helps
A thorough assessment by a developmental paediatrician — useful whether or not a genetic cause is ever found, and the thing no test replaces.
A multidisciplinary discussion with Dr Rahul Bharat before any test is arranged, so testing is a considered team decision rather than a reflex.
Testing arranged where the assessment and UK NICE guidance indicate it — and the right test for the question being asked, rather than whichever test is newest.
Close working with genetics services, so a child who needs a test reaches the right one and a family who gets a result is not left holding it alone.
Interpretation of the result in the context of your child, including what a normal result does and does not rule out.
Genetic counselling and onward clinical management where a diagnosis is confirmed.
Long-term review, because what a child needs changes at different ages.
Worried about your child?
Our specialists assess and support children in person across India and the UK, or online. A real person calls you back within 24 hours.
Common questions
Will my child need a genetic test?
Most children do not. Over the past ten years we have assessed around 9,500 children, and about one in twenty — roughly 5% — went on to have a genetic test. Diagnosis rests on clinical examination and assessment; a genetic test is one investigation among others and is never a routine step. It is considered only when the assessment points towards a genetic cause, and that decision is discussed by the clinical team with Dr Rahul Bharat before anything is arranged. Testing that selectively means families are not paying for tests that were never likely to explain anything — and it means that when we do test, the test usually answers the question. Almost 98% of those children received a specific diagnosis, which we then took forward with genetic counselling and clinical management.
Which genetic test is the right one?
It depends entirely on what is being asked. A chromosomal microarray looks for pieces of chromosome that are missing or duplicated, and is often the right first step where a child has physical features suggesting a syndrome. Sequencing reads the genes themselves and finds changes an array cannot see — but it can miss structural changes an array or a karyotype would have shown. Choosing between them is a clinical decision based on your child's development, examination and history, which is why it follows the assessment rather than replacing it.
Can a genetic test come back normal and still miss something?
Yes, and it matters that families hear this. Each type of test looks at a different thing and each has blind spots, so a normal result does not always mean there is no genetic cause. That is one reason we do not treat a laboratory report as a diagnosis on its own. If the result does not fit what we are seeing in your child, we will say so, and decide with you what is worth doing next. Either way your child's assessment, plan and support do not depend on a genetic answer and continue as they are.
We have just had a diagnosis. What changes?
Usually less about your child than families fear, and more about the plan. Your child is the same child they were the day before. What a diagnosis adds is a clearer idea of what to monitor and what support tends to help — so an assessment after a diagnosis is largely about turning a name into practical next steps.
Will the diagnosis tell us what my child will be able to do?
No — and be cautious of anything that claims otherwise. Ranges published for a condition describe groups of children, not your child, and children with the same diagnosis differ widely. What your child can do is better answered by assessing your child and reviewing progress over time.
Is therapy still worth it if the cause is genetic?
Yes. A genetic cause explains why development is following a different path — it does not mean development stops, or that support makes no difference. Skills are still learned, and targeted support still helps children learn them.
Where we can see your child
Genetic conditions assessment and support is available at every Geniuslane centre, and online wherever you are.
Related care
This page is general information to help parents, not a medical diagnosis or a substitute for professional advice. Every child is different. For a diagnosis or personalised guidance, book an assessment with our team. In an emergency, contact your local emergency services.