Severe Combined Immunodeficiencies (SCID) gene panel
Applicable to labs that undertake gene panel testing for this group of disorders (including targeted panel testing /clinical exome / WES / WGS / Sanger)
Familial SHOX gene related disorders
Applicable to all labs undertaking molecular testing for familial SHOX related disorders.
Spinal Muscular Atrophy (SMA)
Applicable to all labs undertaking molecular genetic testing for this disorder.
Stickler syndrome
Applicable to all labs undertaking molecular genetic testing for this syndrome.
Urothelial / bladder cancer (FGFR SNV/fusion testing) [Tissue]
Applicable to all labs undertaking molecular FGFR3 gene testing for this cancer type using FFPE tissue.
Von Hippel Lindau Syndrome (VHL)
Applicable to all labs undertaking molecular testing for this syndrome
