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Lab Dept:
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Anatomic Pathology
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Test Name:
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MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B (RET) SEQUENCING
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General Information
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Lab Order Codes:
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RET2B
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Synonyms:
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Neuromata, mucosal, with endocrine tumors; Mucosal neuroma syndrome; Wagenmann-Froboese syndrome; Ganglioneuromatosis for the alimentary tract; MEN2B
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CPT Codes:
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81404 – Molecular Pathology procedure, Level 5
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Test Includes:
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Analysis is performed bi-directional sequencing of the coding exons 15 and 16 of the RET gene. Mutations found in the first of a family to be tested are confirmed by repeat analysis using sequencing, restriction fragment analysis, or another appropriate method.
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Logistics
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Test Indications:
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This disorder is characterized by multiple mucosal neuromas of the lips, tongue, and conjunctiva. Patients often have a tall, thin, Marfanoid body habitus. Muscle wasting and weakness are a complication. Gastrointestinal symptoms secondary to ganglioneuromas and colonic diverticula are observed. MEN2B is associated with an increased risk of malignancy, including pheochromocytoma (50% of patients) and medullary thyroid carcinoma (100%).
Reasons for referral:
1. Confirmation of a clinical diagnosis
2. Genetic counseling
3. Identification of at-risk family members
4. Development of a screening program for the associated malignancies
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Lab Testing Sections:
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Anatomic Pathology - Sendouts
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Referred to:
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GeneDx, Inc. (GDX#: 178)
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Daily, 24 hours (Preferred draws are Sunday - Thursday as specimens can only be received at the reference lab Monday - Friday. Specimens collected Friday or Saturday will be held for shipment on Monday.)
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Turnaround Time:
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4 - 5 weeks for new patients
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Special Instructions:
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A GeneDx signed request form must be sent with any patient or specimen to the laboratory.
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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1 - 5 mL blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture for blood specimens, invert gently to mix
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Special Processing:
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Lab Staff: Send whole blood in original collection container labeled with patient name, date of birth and medical record number, including signed consent form and requisition, with a cool pack in warm weather, via overnight or second-day courier so that the sample will arrive at GeneDx, Inc. on a weekday (Monday through Friday). Samples drawn on Friday or Saturday should be held at refrigerated temperatures for shipment on Sunday. Do not freeze.
Note: Specimens may be stored at refrigerated temperatures for up to 7 days prior to shipping.
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Patient Preparation:
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None
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Sample Rejection:
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Unrefrigerated specimens older than 48 hours; clotted or hemolyzed for blood; frozen specimens; mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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No mutations detected
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Critical Values:
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N/A
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Limitations:
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Buccal specimens are not acceptable for this testing.
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Methodology:
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Bi-directional sequence analysis
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References:
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GeneDx, Inc. July 2012
(309) 519-2100 Fax (319) 519-2892
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Update:
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2/7/2013: CPT update
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