Panel Description
Diseases Targeted:
Multiple Endocrine Neoplasia (MEN)
MEN Type 1
MEN Type 2
MEN Type 4
Familial Medullary Thyroid Carcinoma (FMTC)
Overview:
Fulgent’s Multiple Endocrine Neoplasias Comprehensive Panel looks at genes that are commonly associated with increased risk for hereditary multiple endocrine neoplasias and other related conditions. This test includes both well-established multiple endocrine neoplasia susceptibility genes, as well as candidate genes with limited evidence of an association with multiple endocrine neoplasia specific cancers.Who is this test for?
This panel may be appropriate for individuals with a personal or family history suggestive of hereditary multiple endocrine neoplasia. Common features can include but are not limited to multiple tumors (neoplasias- benign or malignant) in the endocrine system (parathyroid glands, pituitary glands, pancreas, adrenal glands and medullary thyroid) and/or other organs/tissues. Biochemical testing indicating irregular (excessive or reduced) hormone levels or elevated calcium levels in the blood may also be suggestive of tumors in these glands. Affected individuals may also exhibit physical features including cutaneous (skin) findings such as multiple lipomas (fatty tissues), angiomas (small growths), cafe-au-lait spots (flat, pigmented birthmarks) or “marfanoid” habitus. Additional features that may be relevant are cancers in the family with an age of onset before 50 years, more than one primary cancer in a single individual, and multiple affected family members. This test is designed to detect individuals with a germline pathogenic variant and is not validated to detect mosaicism below the level of 20%. It should not be ordered on tumor tissue.What are the potential benefits for my patient?
Patients identified with a multiple endocrine neoplasia can benefit from increased surveillance and preventative steps to better manage their risk for cancer. Information obtained from candidate gene testing may potentially be helpful in guiding clinical management in the future. Close relatives of patients who have a pathogenic variant identified by this panel may also be at risk. Children, siblings, and/or parents of individuals identified with pathogenic variants could have as high as a 50% chance of having the same variant, therefore also being at an increased risk for multiple endocrine neoplasia. If an inherited susceptibility is found, your patient’s family members can be tested to help define their risk.Test Description
Order Options:
Turnaround Time:
2.9 – 3.857142857142857 weeks
Cost:
Call for details
Genes:
AIP, CASR, CDC73, CDKN1B, MEN1, RET
( 6 genes )
Coverage:
99% at 50x
Specimen Requirements:
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Test Limitations:
Test results and variant interpretation are based on the proper identification of the submitted specimen and use of correct human reference sequences at the queried loci. In very rare instances, errors may result due to mix-up or co-mingling of specimens. Positive results do not imply that there are no other contributions, genetic or otherwise, to the patient’s phenotype, and negative results do not rule out a genetic cause for the indication for testing. Result interpretation is based on the collected information and Alamut annotation available at the time of reporting. This assay is not designed or validated for the detection of mosaicism. DNA alterations in regulatory regions or deep intronic regions (greater than 20bp from an exon) will not be detected by this test. There are technical limitations on the ability of DNA sequencing to detect small insertions and deletions. Our laboratory uses a sensitive detection algorithm, however these types of alterations are not detected as reliably as single nucleotide variants. Rarely, due to systematic chemical, computational, or human error, DNA variants may be missed. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the confounding contribution of pseudogene sequences or other highly-homologous sequences, sometimes these may still interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Deletion/duplication analysis can identify alterations of genomic regions which are a single exon in size. When novel DNA duplications are identified, it is not possible to discern the genomic location or orientation of the duplicated segment, hence the effect of the duplication cannot be predicted. Where deletions are detected, it is not always possible to determine whether the predicted product will remain in-frame or not. Unless otherwise indicated, in regions that have been sequenced by Sanger, deletion/duplication analysis has not been performed.
Patients with Bone Marrow Transplants:
DNA extracted from cultured fibroblasts should be submitted instead of blood/saliva/buccal samples from individuals who have undergone allogeneic bone marrow transplant and from patients with hematologic malignancy.
Patients with Bone Marrow Transplants:
DNA extracted from cultured fibroblasts should be submitted instead of blood/saliva/buccal samples from individuals who have undergone allogeneic bone marrow transplant and from patients with hematologic malignancy.