Familial transthyretin amyloidosis (TTR)
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000530465.2
Last updated in GTR: 2018-11-07
Last annual review date for the lab: 2015-03-06 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Familial amyloid neuropathy
Genes (1): Help
TTR (18q12.1)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Clinical manifestations consistent with extracellular deposition of amyloid material in …
Not provided
Establish or confirm diagnosis; Guidance for management; Predictive risk information for patient and/or family members
Ordering Information
Offered by: 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
Confirmation of research findings
Custom Sequence Analysis
Data Storage and Backup
Result interpretation
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
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: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Clinical utility: Help
Establish or confirm diagnosis

Guidance for management

Predictive risk information for patient and/or family members

Target population: Help
Clinical manifestations consistent with extracellular deposition of amyloid material in various organs, either in isolation or generalized.These manifestations depend on the affected organ and the amount of deposited amyloid. Amyloidosis is estimated in 1 in 60,000 people, with 0.8% prevalence in autopsies. The deposition of amyloid is common on the … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
1-Previously reported or identified in our lab 2-Reported in controls (from our lab, dbSNP, ENSEMBL, NHLBI GO ESP) 3-Functional studies 4-Variant affecting the same domain/close variants 5-Bioinformatics tools

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
Yes. We use to inform about any relevant update by e-mail. The update is always includes a new report made for a carrier relative.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity >95%, Specificity >95%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Software used to interpret novel variations Help
Polyphen-2, SIFT, PMUT, SSF, HSF, MaxEnt, NNSplice

Laboratory's policy on reporting novel variations Help
We inform about them in our test report.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.