Lung Cancer (NSCLC) [Tissue]
This EQA has two modules: COMMON BIOMARKERS (mandatory to participate in this EQA) and NEW & EMERGING BIOMARKERS (optional to participate in this EQA) both using FFPE to test.
Melanoma [Tissue]
BRAF, NRAS and KIT gene testing in melanoma (FFPE).
Skeletal Dysplasias
Gene panel testing for patients affected with a form of skeletal dysplasia. This is a pilot EQA, places are limited, complete the form to express interest in participation (see participant information section).
Stickler syndrome
Collagen gene (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2) testing for patients with Stickler syndrome and familial cases.
Neuromuscular Disorders
Dystrophin gene and panel testing for Rare Neuromuscular Disorders (NMD) (germline DNA). This EQA has options for targeted DMD / BMD testing and/or NMD panel testing.
Rare Neurological Disease (RND) Gene Panel
NGS gene panel testing for Rare Neurological Diseases (Germline DNA) (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)