Tests that support assessment
Hereditary disease tests support diagnosis and assessment of inheritance risks within a family, including enquiries before marriage or when planning a pregnancy.
Areas listed in the laboratory’s services
- Inherited metabolic conditions.
- Lysosomal storage conditions, including Gaucher, Niemann–Pick and MPS.
- Fetal conditions and newborn genetic screening.
- Conditions associated with muscle, bone and joint disorders.
Samples and results
Sample type, collection requirements and turnaround time depend on the requested test. Confirm instructions with the laboratory and discuss the meaning of your results with your clinician.