MEN1 gene sequence

General Information

Lab Name
Lab Code: 439
Description: MEN1 is an autosomal dominant syndrome characterized by endocrine tumors: parthyroid, anterior pituitary, islet cells. Non-endocrine manifestations include angiofibromas, leiomyomas, meningiomas, and ependymomas. Recently, studies have demonstrated genetic changes of MEN1 in familial isolated hyperparathyroidism. This test sequences coding regions and splice sites of exons 2-10 of the MEN1 gene and is expected to detect >95% of small intragenic mutations. 75-90% of patients with a clinical diagnosis of MEN1 have germline mutations, regardless of family history. Note: Testing for this gene is also available in-house using next-generation sequencing technique. See Lab Mnemonic: CAGENE. Submissions to GeneDx must include a completed test requisition form. See Link below. GeneDx Test Requisiton
MEN1 info sheet
Synonyms: MEN 1; Endocrine adenomatosis, multiple; MEA I; Wermer syndrome; Menin; DNA; neoplasia

Method: Analysis is performed by bi-directional sequencing of the coding regions and splice sites of exons

Specimen Type: Blood, amniotic fluid or chorionic villus sample
Collection: Blood: 1-5 mL whole blood in a single LAVENDER TOP (EDTA) tube
Prenatal Diagnosis: 10 mL amniotic fluid, 5 mg CVS, or 2 T25 flasks.
Unacceptable: Buccal Brushes
Handling Instructions

Processing: Login: GSEND1-;ROOM TEMP
GSNDT1: GENEDX
GSTYP1: WB; or AMN or CV
GTSRQ1: ;MEN1 GENE SEQUENCE

Sendouts, order GeneDx Test #176 for Mutation detection in a new patient.
GeneDx Test #902: Prenatal diagnosis for a specific known mutation
Blood: Ship overnight at ambient temperature, using a cool pack in hot weather. Blood specimens may be refrigerated for 7 days prior to shipping.
Prenatal diagnosis: Ship overnight at ambient temperature, using a cool pack in hot weather. Call to discuss requirements for parental blood. Keep backup cultures.

Stability: Whole blood samples in EDTA or ACD anticoagulant should be stored at 4 degrees while awaiting shipment. Whole blood samples are stable for at least one week prior to shipping if stored at 4°C.

LIS Dept Code

Performing Location(s)

HMC	Sendout
UW-MT	Sendout

Other Locations/Notes

GENEDX GeneDX

207 Perry Parkway

, Gaithersburg, MD 20877

1-301-519-2100

Frequency

Available STAT?

CPT codes
Billing Comments: CPT: 83891 x 9; 83898 x 9; 83894 x 9; 83904 x 18; 83892 x 2; 83912 x 2
LOINC