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MEN1 Gene Sequencing

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

MEN1

Disorders:

• Familial Isolated Hyperparathyroidism (FIHP)
• Multiple Endocrine Neoplasia Type 1
• Wermer syndrome

Clinical Utility:

• 1. Confirmation of a clinical diagnosis
• 2. To differentiate MEN1-related FIHP from other causes (mutations in CASR or HRPT2 genes)
• 3. Identification of at-risk family members
• 4. To determine appropriate surveillance and treatment protocols
• 5. Prenatal diagnosis

Lab Method:

Capillary Sequencing

ORDERING

Test Code:

176

Turnaround Time:

3-4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

81405x1

List Price:

$1,000.00

Billing Information:

View Billing Policy

ICD Codes:

• 227.1: Parathyroid gland
• 227.3: Pituitary gland and craniopharyngeal duct (pouch), Craniobuccal pouch, Hypophysis Rathke's pouch, Sella turcica
• 227: Adrenal gland, Suprarenal gland

REFERENCES

1. Pannett, AA. et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol. 58:639-646, 2003
2. Warner, J. et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41:155-160, 2004
3. Villablanca, A. et al. Involvement of the MEN1 locus in familial isolated hyperparathyroidism. Eur J Endocrinol. 147: 313-322, 2002
4. Klein, RD. et al. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genet Med. 7:131-138, 2005
5. Cavaco, BM. et al., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions. Clin Endocrinol. 56:465-473, 2002
6. Bergman, L. et al., Identification of MEN1 gene mutations in families with MEN1 and related disorders. Br J Cancer. 62:1009-1014, 2000
7. Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J Hum Genet. 63: 455-467, 1998
8. Bassett J.H.D., et al., Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1. Am J Hum Genet. 62: 232- 244, 1998
9. Agarwal S. et al., Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type1 and related states. Hum Mol Genet. 6: 1169-1175, 1997

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