Inherited and Rare Disease Testing

When symptoms, a diagnosis or a pattern within a biological family suggests a possible inherited condition, private inherited and rare disease testing can provide another source of information to support the next clinical conversation.

Because inherited conditions can affect many different parts of the body, choosing a panel that matches the relevant health area matters more than simply choosing the largest test. A focused route keeps the analysis connected to the question you are trying to answer.

Our current range covers cardiovascular conditions, inherited metabolic diseases and broader newborn and infant screening. Choose the area that most closely reflects your circumstances, then review its test scope, sample method and practical next steps.

Choose the health area you want to explore

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Cardiovascular Genetic Testing

Choose this route to explore selected inherited conditions affecting the heart and blood vessels.

You can select a focused panel for a defined clinical area or one broader cardiovascular panel. Every option uses a buccal cheek swab that you can collect at home.

Explore cardiovascular genetics

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Metabolic Genetic Testing

Choose this route to explore selected inherited conditions that affect how the body creates energy or processes particular substances.

The current test is available for children and adults. It uses one broad gene panel and an at-home buccal cheek swab.

Explore metabolic genetics

Newborn and Infant Genetic Screening

Choose this route for broader private screening of selected childhood-onset conditions from 24 hours after birth.

A parent or guardian can collect the specialised buccal cheek swab gently at home. The private panel is designed to complement routine newborn care and NHS screening.

Explore newborn screening

What these tests can add

Although the three routes cover different areas of health, they follow the same basic principle: each panel checks selected genes linked to a defined group of inherited conditions. If a relevant finding is identified, it can give your healthcare professional useful information when considering clinical confirmation, another investigation or advice for biological relatives.

However, these tests are not emergency services. If you or your child has serious or worsening symptoms, including chest pain, severe breathlessness, fainting, a seizure, repeated vomiting or unusual sleepiness, seek prompt medical help.

We always recommend that results are discussed with your Healthcare Professional.