Lung Cancer (NSCLC) [Plasma]
EGFR, BRAF and KRAS testing of cfDNA (plasma) for NSCLC. This EQA is sponsored.
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).
Monogenic Diabetes
GCK, HNF1A, HNF1B and HNF4A testing for Mongenic Diabetes (germline DNA)
Spinal Muscular Atrophy (SMA)
SMN1/SMN2 copy number testing for patients with spinal muscular atrophy.
Mitochondrial DNA disorders
Testing for variants in the mitochondrial genome for the following mitochondrial disorders: MELAS, NARP, LHON, MERRF, Leigh syndrome, and Pearson syndrome.