Microsatellite Instability testing
Applicable for all labs undertaking Microsatellite Instability testing (MSI).
Mitochondrial DNA disorders
Applicable to all labs undertaking molecular genetic testing for this group of mitochondrial disorders
NIPT for common aneuploidies (including sex chromosomes)
Applicable for all labs undertaking NIPT for common aneuploidies (including sex chromosomes).
NIPT for fetal sexing (X-linked disorders)
Applicable for all labs undertaking NIPT for fetal sexing (X-linked disorders).
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.