Catherine Nicholls

Profession	Molecular Geneticist and Medical Scientist
Job Title	Section Head, Molecular Genetics Laboratory
Organisation Name	SA Pathology
Areas of Special Interest	Alpha and beta thalassaemia (HBA2, HBA1, HBB, HBD genes) Haemophilia A, B and C (F8, F9, F11 genes) von Willebrand disease (vWD and GP1B alpha genes) Factor VII deficiency (F7 gene) Protein C deficiency (PROC gene) Next generation sequencing panels for bleeding disorders Haemoglobinopathies (all) Bleeding disorders
Adults or Children	Adults and Children
Clinic Services	Next generation sequencing (NGS) panels (only SA patients at the present time) and molecular confirmation using other techniques
Clinic Contact details	Genetics and Molecular Genetics Directorate, SA Pathology, Frome Road, Adelaide South Australia
Telehealth consults	Not available
Transitional Planning – Paediatric to adult services	null

Email	catherine.nicholls@sa.gov.au
Phone	08 8222 3586

Catherine Nicholls

is prepared to be contacted by other Health Professionals

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