PAEDIATRIC GENETIC TESTING

Paediatric genetic testing looks at your child’s DNA to see if there are any genetic changes or mutations that could affect their development and wellbeing. 

Your child’s wellbeing is the at the heart of everything we do. Our advanced genetic testing services for children aim to:

• Help diagnose whether they have a hereditary genetic condition
• Assess their chances of developing one over time
• Determine whether they’re a carrier of a hereditary genetic condition – with no symptoms but able to pass a condition to any children they may have
• Accurately determine which parent your child has inherited a condition from (it could be one, both or neither)
• Decide on the best way to treat and manage any conditions that they’ve inherited

Our advanced genetic testing services help your consultant screen your child’s DNA for a wide range of common and more unusual genetic conditions, including:

Heart disease
While many forms of heart disease are not hereditary, inherited cardiovascular disease is usually caused by a gene mutation carried and passed down through families. 

Cystic fibrosis
Cystic fibrosis is an inherited condition caused by an altered gene that causes the build-up of sticky mucus in the lungs and digestive system.

Thalassemia
This inherited blood disorder causes the body to produce less haemoglobin than normal, so your child’s red blood cells don’t carry as much oxygen as they should. Mild thalassemia often requires no treatment. 

Spinal muscular atrophy
Spinal muscular atrophy (SMA) is a rare, genetic neuromuscular disorder causing progressive muscle weakness and wasting due to the degeneration of motor neurons in your child’s spinal cord. It’s caused by a genetic mutation that affects how their long motor neurons survive. 

Developmental delay and intellectual disability
If your child has a developmental delay or an intellectual disability, genetic testing can help to identify the cause, such as chromosomal abnormalities or single-gene disorders. 

Epilepsy
If your child has epilepsy, genetic testing can determine if it’s caused by a genetic factor so we can decide how best to treat and manage their condition. It also helps to determine the chances of other family members developing it.

Ehlers-Danlos syndromes (EDS)
This group of rare inherited conditions causes connective tissue disorders in the skin, tendons, ligaments, blood vessels and internal organs as well as skeletal dysplasia. There are 13 types from the mild to the extremely serious which we can diagnose and help to treat and manage.

Dysmorphic syndromes such as cleft lip and palate
Cleft lip and palate can occur as part of a broader dysmorphic syndrome causing multiple congenital anomalies such as Van der Woude syndrome, Pierre Robin sequence, Stickler syndrome and 22q11 deletion syndrome. 

Tuberous sclerosis
This rare genetic condition causes mainly benign tumours to develop in different parts of the body, most commonly affecting your child’s brain, skin, kidneys, heart, eyes and lungs.

Neurofibromatosis type 1 (NF1)
NF1 is a genetic condition characterised by changes in skin pigment including flat, light brown spots and freckles in the armpits and groin as well as by tumours which may grow anywhere in the nervous system. 

Muscular and metabolic disorders
Also known as metabolic myopathies, these rare, genetic conditions disrupt your child’s ability to produce energy for muscle function, leading to muscle weakness, cramps and exercise intolerance. 

Immune dysfunction
This is when your child’s immune system doesn’t work the way it should. If their immune system is too active, they may develop allergic reactions or their immune system can turn against them, called autoimmune disease and this can be something your child is born with.