Friedreich Ataxia (FRDA)
Applicable to all labs undertaking molecular genetic testing for this disorder.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) and optional gene panel testing for hereditary cystic kidney disease
Applicable to all labs undertaking molecular genetic testing for this disorder.
Hereditary Amyloidosis
Applicable to labs that undertake molecular genetic testing for this group of disorders
Y-Chromosome Microdeletion testing (AZF)
Applicable to all labs undertaking Y-Chromosome Microdeletion testing for male infertility.
Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS)
Applicable to all labs undertaking molecular genetic testing for these syndromes
Congenital Adrenal Hyperplasia (CAH)
Applicable to all labs undertaking molecular genetic testing for this disorder.
