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|Method||PCR and DNA sequencing|
|Collection Instructions||Complete the special history form and submit with specimen.
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|Container type||Lavender top|
|Amount to Collect||6 mL blood|
|Sample type||EDTA whole blood|
|Preferred volume||6 mL blood|
|UCSF Rejection Criteria||Lipemic or markedly hemolyzed sample.|
|Processing notes||Keep sample at room temperature. Do not centrifuge or freeze sample. Slight hemolysis or lipemia do not interfere with the assay, but heavily contaminated samples should be recollected. Include the completed history form. Order Quest # 55426N.|
|Normal range||No mutations detected|
|Synonyms||PCR; MEN2; FMTC mutations; Multiple endocrine neoplasia|
|Turn around times||Test performed Wednesday. Turnaround time: 1-8 days.|
|Additional information||The DNA sequences of exons 10, 11 and 16 of the RET proto-oncogene are amplified and sequenced, seeking particularly mutations in codons known to be "hot spots" for mutations leading to Multiple Endocrine Neoplasia Type 2 (MEN-2). Over 95% of cases of MEN-2A and 85% of cases of Familial Medullary Thyroid Carcinoma (FMTC) are associated with mutations affecting one of five codons in exons 10 (condons 609, 611, 618 and 620) or 11 (codon 634), each of which encodes a conserved cysteine residue in the RET tyrosine kinase receptor protein. Over 95% of individuals with MEN-2B have a germline mutation in codon 918 of exon 16, which converts a methionine to a threonine (designated M918T). Mutation identification can be used to confirm a diagnosis, screen individuals at risk for familial disease, or distinguish familial from sporadic disease.
|Last Updated||7/15/2013 9:59:06 AM|