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MEN1 Gene Sequencing and Del/Dup

New York
Approved


Genes

MEN1

Conditions

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

Clinical Utility

  • An individual with a personal and/or family history of tumors associated with multiple endocrine neoplasia, type I (MEN1) especially parathyroid tumors, gastro-entero-pancreatic neuroendocrine tumors, and anterior pituitary tumors.
  • Other common features include adrenocortical and carcinoid tumors, facial angiofibromas, collagenomas, ependymomas, leiomyomas, lipomas, and meningiomas
  • An individual with multiple primary or multi-focal endocrine tumors
  • An individual with a personal and/or family history of isolated parathyroid tumors concerning for familial isolated hyperparathyroidism (FIHP) which may be associated with pathogenic variants in the MEN1 gene, among others
  • An unaffected individual with a family history suggestive of MEN1 (see above) when an affected individual is unavailable for his or her own genetic testing

Lab Method

  • Capillary Sequencing
  • MLPA

Test Code

719

CPT Codes*

81405x1, 81404x1

ABN Required

No

Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Fibroblasts (separate charge for cell culture may apply)

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.