EGFR Mutation Analysis

Synonyms	EGFR MUTATION ANALYSIS LAB14277
Cerner Name	HLX EGFR Mutation Analysis
Clinical Info	ASSAY DESCRIPTION: The epidermal growth factor receptor (EGFR) signaling pathway is frequently activated in human cancers including non-small cell lung adenocarcinoma (NSCLC) and colorectal carcinoma (CRC). Mutations in EGFR biomarker have diagnostic and prognostic value and determine the choice of treatment. This qualitative assay, performed on the Biocartis Idylla™ System using exclusivelly FFPE samples (Slides), detects 51 EGFR mutations: Point mutations in Exon 18 (G719A/C/S), 36 deletions in exon 19, Point mutations in Exon 20 (T790M, S768I), 5 insertions in exon 20 and point mutations in exon 21 (L858R, L861Q) of the EGFR oncogene. LIMITATIONS: This assay is qualitative and is not intended to detect minimal residual diseas. The assay detects G719A, G719C and G719S mutations but does not distinguish between each variant. Any of the 3 mutations will be reported as G719A/C/S. The assay relies on primers designed to detect specific deletions in Exon 19, and insertions in Exon 20. While most are covered by the assay, some, not covered by the primers, might not be detected. Mutations present below the limit of detection of the assay (5%) might not be detected.
Specimen Sources	Abdomen/Peritoneum Abscess Adenoids Adenoids Adrenal, Left Adrenal, Right Alopecia Amputation Anus Appendix Axilla, Left Axilla, Right Bile Duct Bladder Bone Bone Marrow Brain Breast, Left Breast, Right Bronchial, Left Bronchial, Right Catheter Cervix Colon Diaphragm Duodenum Ear, Left Ear, Right Endocervix Esophagus Extranodal Lymphoid Eye, Left Eye, Right Fallopian Tube, Left Fallopian Tube, Right Foreign Body Gallbladder Hardware/Implants Heart Hepatobiliary Duct Hernia Sac Hydrocele Ileum Jejunum Joint Kidney, Left Kidney, Right Larynx Liver Lung, Left Lung, Right Lymph Node Mandible Maxilla Mediastinum Meninges/Dura Misc Muscle Nail Nasal/Nasopharynx Nerve Ocular Omentum Oropharynx Oropharynx/Throat Ovary, Left Ovary, Right Pancreas Pancreas, Body Pancreas, Head Pancreas, Tail Pancreatic Duct Parathyroid, Left Parathyroid, Right Pelvic Penis Pericardium Pharynx Placenta Pleura, Left Pleura, Right Product of Conception Prostate Rectum Retroperitoneum Salivary Gland, Left Salivary Gland, Right Skin Soft Tissue Spinal Cord Spleen Stoma Stomach Synovium Testis, Left Testis, Right Thyroid, Isthmus Thyroid, Left Thyroid, Right Thyroid, Total Tongue Tonsil, Left Tonsil, Right Tooth Trachea Ureter, Left Ureter, Right Urethra Urine Uterus Vagina Vas Deferens, Left Vas Deferens, Right Vascular Vulva Wound Deep Wound/Skin Superficial Show more...
Specimen Types	Tissue
Specimen Volume	4 ubstained 5- μm FFPE slides (each with an area of 50-600 mm²) are required. If the tumor content is less than 10%, Please submit an additional H&E slide for macrodissection
Container	FFPE-Slides
Collection Instructions
Transport Instructions	Room Temperature
Specimen Stability
Methodology	Qualitative Real-Time PCR performed on the Idylla™ platform
Days Performed	Monday - Friday
Performing Laboratories	Northwell Health Laboratories
CPT	81235,88381
PDM	238469
Results
Result Interpretation Negative for EGFR Mutations Listed Limitations; This assay is qualitative and is not intended to detect minimal residual diseas. The assay detects G719A, G719C and G719S mutations but does not distinguish between each variant. Any of the 3 mutations will be reported as G719A/C/S. The assay relies on primers designed to detect specific deletions in Exon 19, and insertions in Exon 20. While most are covered by the assay, some, not covered by the primers, might not be detected. Mutations present below the limit of detection of the assay (5%) might not be detected
Forms

Flow/Mol/Cytog - No Subgroup LAB14277