Hereditary onco-endocrino tumors (50 genes)
GTR Test Accession: Help GTR000333054.6
Last updated in GTR: 2024-03-29
Last annual review date for the lab: 2024-04-08 LinkOut
At a Glance
Diagnosis; Predictive; Screening
Pheochromocytoma; ACTH-independent macronodular adrenal hyperplasia 2; AIP-Related Familial Isolated Pituitary Adenomas more...
AIP (11q13.2); ALK (2p23.2-23.1); ARMC5 (16p11.2); AXIN2 (17q24.1); BAP1 (3p21.1) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
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Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
Lab contact: Help
Anne De Leener, MD, Genetic Counselor
Emeline Bollaert, PhD, Staff
Magali Philippeau, MSc, Staff
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 25
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 49
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose: Help
Diagnosis; Predictive; Screening
Recommended fields not provided:
Technical Information
Test Confirmation: Help
Sanger sequencing and MLPA
Test Comments: Help
Turn Around Time is 3 months
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sequencing detects 99% of the reported mutations in these genes. The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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