|Downtime form:||A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery|
|Pink top tube 6 mL (K2-EDTA)|
Absolute Minimum: 1 mL whole blood in pink K2EDTA tube
Please print, complete and submit the following forms to the lab, with the specimen and the A-1a Miscellaneous Request:
Informed Consent for DNA Testing and the Sample Submission Form - Testing Services for Rare Mendelian Disorders from GeneDx DNA Diagnostic Experts.
This mailout test requires pathologist approval for orders during inpatient encounters. Mailouts staff will not process order without approval. The pathologist covering mailouts approval can be reached at pager #5379. If approval is given, the name of the pathologist can be selected in the drop-down menu to the right of the approval warning in Epic when ordering the test.
The reference laboratory offers a known familial variant test. If you want to order the known familial variant version of the test, please order LAB7858.
Analysis is performed by bi-directional sequencing of the coding regions and splice sites of exons 2-10 of the MEN1 gene. Mutations found in the first person of a family to be tested are confirmed by repeat analysis using sequencing, restriction fragment analysis, or other appropriate method. Germline MEN1 gene mutations have been found in 75-90% of patients with a clinical diagnosis of MEN1, regardless of family history. This sequencing approach is expected to identify >99% of existing small intragenic mutations.
81404 (Dup/Delet Variants)