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).
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.
