A blood sample will be taken and tested in a laboratory. This is a common way to check if the liver is damaged and how well it works. The tests also monitor liver disease over time. They show if your child’s liver is getting healthier, getting worse or staying the same.

Ultrasound scans use sound waves to make pictures of the inside of the body. They help check and monitor:

• the size and texture of your child’s liver
• the size of your child’s spleen
• blood flow to and from your child’s liver
• your child’s gallbladder and bile ducts
• the size and shape of your child’s kidneys

The medical team use special scans to check the amount of stiffness in your child’s liver. Healthy liver tissue is soft, so stiffness shows that damage has occurred. You may hear this type of scan called a FibroScan or transient elastography.

Special blood tests will check for changes in your child’s DNA. In Alagille syndrome, doctors look for changes in the JAG1 or NOTCH2 genes. Family members may also be offered genetic testing.

Liver biopsies are not always needed, but may be used if there is doubt around the diagnosis. During a liver biopsy a very thin needle goes through the tummy wall and into the liver. The needle collects a small sample of liver tissue. This is sent to a laboratory to be studied under a microscope.

An X-ray uses radiation to take a picture of the bones in the body. In Alagille syndrome, it looks for changes in the bones of your child’s spine.

An echocardiogram is a type of ultrasound that uses sound waves to make pictures of the heart. It looks at the structure of the heart and blood flow through the heart. It also looks for heart murmurs, which are extra sounds in the heartbeat.

Doctors check for eye problems with a special lamp called a slit lamp. This is a microscope with a bright light that helps the doctor see inside your child’s eyes.

A cholangiogram is an X-ray that uses a special dye to show the bile ducts. It is usually done during surgery when your child is asleep. This test checks for blockages in bile ducts outside the liver.

Doctors may use a cholangiogram if a diagnosis in your child is not clear or if genetic test results aren’t ready. It can also help rule out other liver conditions.

These tests use strong magnets and radio waves to create images of the body. They can only be used when children are old enough to sit very still. In Alagille syndrome, they help doctors see the blood vessels in the head.