Mitochondrial DNA disorders
Applicable to all labs undertaking molecular genetic testing for this group of mitochondrial disorders
DNA SEQUENCING – NGS (Germline SNVs and indels)
Applicable to any labs using NGS as part of their germline testing process.
Multiple Endocrine Neoplasia Type 2 (MEN2)
Applicable for all labs undertaking molecular genetics testing for this disorder.
Monogenic Diabetes
Applicable for all labs undertaking molecular genetic testing for this group of disorders.
Hereditary Breast / Ovarian cancer (HBOC) (germline)
Applicable to labs that undertake germline testing for this group of disorders
Huntington disease (HD)
Applicable to all labs undertaking molecular genetics testing for this disorder.
