Multiple Endocrine Neoplasia Type 1 (MEN1)
Use
Multiple Endocrine Neoplasia Type 1 (MEN1) is an inherited cancer syndrome characterized by the occurrence of both endocrine and non-endocrine tumors, mainly involving the parathyroid gland, anterior pituitary gland, and the pancreas. Genetic testing for MEN1 is crucial for early diagnosis and management of the syndrome, allowing for targeted surveillance and intervention. The test analyzes MEN1 coding exons 1-9, as well as significant parts of the intronic and untranslated regions, to detect both sequence variations and gene copy number changes.
Special Instructions
We offer family variant testing at no additional cost for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing, or exome sequencing at Ambry Genetics and are found to have pathogenic variants. Testing must be completed within 90 days of the original report date. Ambry Genetics can only provide family testing services to patients receiving medical care in the U.S or US territories.
Limitations
Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. The test focuses on detecting clinically significant intronic findings beyond 5 base pairs. Potentially homozygous variants in regions with pseudogene interference, and variant calls that do not meet depth of coverage and variant allele frequency quality thresholds, require confirmation by Sanger sequencing.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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