Familial Adenomatosis Polyposis
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000527982.1
Last updated in GTR: 2015-09-01
Last annual review date for the lab: 2023-07-21 LinkOut
At a Glance
Mutation Confirmation; Pre-symptomatic; Recurrence; ...
Familial colorectal cancer; Attenuated familial adenomatous polyposis; Familial adenomatous polyposis 1; ...
Genes (2): Help
APC (5q22.2), MUTYH (1p34.1)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Identification of individuals with increased risk of developing colorectal cancer …
Not provided
Guidance for management
Ordering Information
Offered by: Help
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
  • Public Health Mandate
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
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 5
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 3
Method Category Help
Test method Help
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3130 Genetic Analyzer, MRC Holland
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Applied Biosystems 3130 Genetic Analyzer, CE IVD Kit
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130 Genetic Analyzer
Clinical Information
Test purpose: Help
Mutation Confirmation; Pre-symptomatic; Recurrence; Risk Assessment; Screening; Therapeutic management
Target population: Help
Identification of individuals with increased risk of developing colorectal cancer and other extra-intestinal changes such as extra and intra-ventricular desmoid tumors, hepatoblastomas, myeloblasomas, thyroid tumors, brain tumors, hepatic bile ducts tumors, ampulla of vater tumors and tumors of the adrenal (FAP).
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Recommended fields not provided:
Technical Information
Test Platform:
Illumina MiSeq system
Test Confirmation: Help
Positive results are confirmed on a new DNA preparation using bidirectional Sanger sequence analysis (for point mutations and small indels) or an alternative probe mix (MRC, Holland) for large genomic rearrangements.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
yes 100%
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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