Catherine Nicholls


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

Phone 08 8222 3586

Catherine Nicholls

is prepared to be contacted by other Health Professionals

For links to online portals that provide information on rare diseases including definitions, causes, treatments, and publications for patients, families and professionals in the field. Please see our conditions page.