RET Codon 918 Mutation Analysis
Germline RET codon 918 mutation substituting methionine for threonine (p.M918T) is an activating point mutation found in approximately 95% cases of multiple endocrine neoplasia Type 2B (MEN2B), a group of familial cancer syndromes characterized by medullary thyroid carcinoma, pheochromocytoma, parathyroid hyperplasia and ganglioneuromatosis of the gastroenteric mucosa.
Additionally, somatic mutations of RET are reported in 20-80% of sporadic medullary thyroid carcinomas and rare cases of apparently isolated intensional ganglioneuromatosis, with vast majority affecting codon 918. The tumors with p.M918T mutation are reported to display a more aggressive phenotype. The assay offered by our laboratory detects activating mutations in codon 918 in exon 16 of RET and aids in the assessment of patients in appropriate clinicopathologic settings.
This test is performed by PCR-based Pyrosequencing of DNA to examine the mutation status of codon 918 in exon 16 of RET.
This assay can detect mutations present in codon 918 of RET. The sensitivity of the Pyrosequencing assay is 5-10% of variant sequence in the background of wild-type sequence.
• 10 ug of purified DNA, sent on dry ice
• Four to six unstained recut slides of formalin-fixed, paraffin embedded tissue containing adequate amounts of tumor to be analyzed (See Sensitivity.)
The area of tumor to be analyzed should be indicated by circling the area on the bottom side of the slide or in a separate H&E-stained guide section.
Please provide a copy of the corresponding pathology report.
Additional charges may apply for tissue extraction.
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.