Other genetic Testing

We offer a comprehensive range of genetic testing, from analysis of single genes to comprehensive multi-gene sequencing panels.

Please contact us for more information on specialist Next-Generation Sequencing (NGS) panels.

Specialisms include:

  • Cardiology – a number of panels available covering different cardiological disorders, including cardiomyopathy.
  • Dermatology – panels available for many genetic dermatological diseases.
  • Hearing loss – a comprehensive panel covering syndromic and non-syndromic causes of deafness.
  • Endocrinology – a number of panels available related to endocrine disorders, such as MODY, DSDs, etc.
  • Metabolic disorders – a comprehensive panel covering metabolic diseases.
  • Nephrology, pulmonology and ciliopathies – a number of panels available covering diseases of the lungs and kidneys.
  • Gastroenterology – for diseases such as cholestasis and other genetic gastroenterological disorders.
  • Haematology – covers inherited haematological disorders such as bone marrow failure and bleeding disorders.
  • Immunology – includes many genes related to primary immunodeficiency.
  • Malformations – covers skeletal and non-skeletal malformations, such as osteogenesis imperfecta, craniosynostosis, dwarfism, etc.
  • Neurology – a number of panels available, for muscular dystrophy, epilepsy, ataxia, autism, etc.
  • Ophthalmology – panels covering a range of genetic eye disorders, such as retinal dystrophy, retinitis pigmentosa, etc.cancer)
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