Melanoma [Tissue]
BRAF, NRAS and KIT gene testing in melanoma (FFPE).
Spinocerebellar Ataxias (SCA)
Testing for Spinocerebellar Ataxias (SCA) (Germline DNA).
Severe Combined Immunodeficiencies (SCID) gene panel
Gene panel testing for Severe Combined Immunodeficiencies (SCID) (including targeted panel testing /clinical exome / WES / WGS / Sanger) (Germline DNA)
Familial SHOX gene related disorders
SHOX testing for familial SHOX related disorders (Germline DNA).
Spinal Muscular Atrophy (SMA)
SMN1/SMN2 copy number testing for patients with spinal muscular atrophy.
Stickler syndrome
Collagen gene (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2) testing for patients with Stickler syndrome and familial cases.