Familial autosomal dominant hypercholesterolemia (FH)
Applicable to all labs undertaking molecular genetic testing for this disorder.
Fragile X Syndrome (FRAX)
Applicable to all labs undertaking molecular genetic testing for this syndrome (including those which cannot detect the ENTIRE range of expansions +/- methylation patterns).
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.
