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.
Pan-Tumour Fusions [FFPE]
Applicable to all labs undertaking molecular genetic testing for this fusion genes in solid tumours.
Y-Chromosome Microdeletion testing (AZF)
Applicable to all labs undertaking Y-Chromosome Microdeletion testing for male infertility.
Breast cancer (AKT pathway gene testing (PIK3CA, AKT1, PTEN) [Tissue]
Applicable to labs undertaking molecular testing of the PIK3CA, AKT1 and PTEN genes in this type of cancer.
Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS)
Applicable to all labs undertaking molecular genetic testing for these syndromes
