Conditions we test for

The study uses a single sample to look for changes in genes linked to 200+ rare conditions.

About these conditions

The conditions we test for:

  • Usually appear in the first few years of life
  • Can be improved if caught early
  • Can be treated through the NHS in England

Some conditions have simple treatments, like taking a daily vitamin. Others are treated more intensively, with therapies and medication.

All the conditions are rare, but you may recognise the names of some of them. Others you may never have heard of.

The test includes

Well-known conditions like Cystic Fibrosis.

Lesser-known conditions like Barth Syndrome and Diamond Blackfan Anaemia.

Hormonal conditions that affect growth and development, like genetic Hypothyroidism and Growth Hormone Deficiency. 

Blood conditions that affect red blood cells like Sickle Cell Disease, or blood clotting like Haemophilia.

Immune system conditions that increase someone’s risk of life-threatening infections, like Severe Combined Immune Deficiency (SCID).

Metabolic conditions that affect the body’s ability to process certain substances and remove toxins, like Phenylketonuria.

View all conditions

The test does not include

Allergies such as food allergies, hay fever, eczema, or asthma.

Neurodiversity like Autism, ADHD, ADD, and Dyslexia.

Many other conditions that affect health and development. Talk to your GP or midwife if you are ever worried about your baby’s health or family history.

Keep in mind

A few of the conditions we test for do not have immediate symptoms. Here is an example to consider.


Your baby is diagnosed with a genetic condition after extra tests following a result from the Generation Study.
You meet with the specialist team at a hospital. They explain that although your baby seems well now, they will likely start to have symptoms within two years. Once that happens, your child will start getting treatment in the NHS.

Until then, your baby will need check ups every six months. You will need to monitor your baby for symptoms, and this could be worrying. You get support from the specialist team and genetic counsellors.

Finding this condition early can help to be prepared to start treatment as early as possible. However, some families would prefer not to know about the condition until symptoms are showing.

We recommend considering this example carefully before you join the study.