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Constitutional

Diagnostic testing is available for a wide range of both common and rare genetic conditions affecting neonates, children and adults.

We have recently introduced Next Generation Sequencing for testing panels of genes associated with inborn errors of metabolism, connective tissue disorders and neurogenetic disorders.
    Congenital thrombotic thrombocytopenic purpura diagnostic test
    Congenital thrombotic thrombocytopenic purpura (TTP) / ADAMTS13 deficiency (Upshaw-Schulman Syndrome)
    Factor V Deficiency Diagnostic Test
    Factor V Deficiency
    Factor XIII Deficiency diagnostic test
    Factor XIII Deficiency
    Glanzmann thrombasthenia diagnostic test
    Glanzmann thrombasthenia
    Glycogen Storage Disease Diagnostic Test
    Glycogen Storage Disease Next Generation Sequencing Panel: Liver
    Haemophilia B/Factor IX deficiency diagnostic test
    Haemophilia A & B/Factor IX deficiency
    Haemophilia A/Factor VIII deficiency test
    Haemophilia A/Factor VIII deficiency
    Hereditary Spastic Paraparesis (HSP) Test
    Hereditary Spastic Paraparesis (HSP)
    Metabolic Myopathies Rhabdomyolysis Diagnostic Test
    Metabolic Myopathies / Rhabdomyolysis
    MYH9 Macrothrombocytopenia Test
    MYH9 Macrothrombocytopenia
    von Willebrand Disease Diagnostic Test
    von Willebrand Disease
    Wilson Disease (ATP7B) Diagnostic Test
    Wilson disease (ATP7B)

    Service Groups



      News

      Transactional website goes live offering specialist genetic testing

       

      First tests to go live are Glycogen Storage Disease Next Generation Sequencing Panels: Liver, Metabolic Myopathies / Rhabdomyolysis & Wilson Disease. 

      Keep a look out for more tests added soon!
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