Transthyretin (TTR) gene Val30Met mutation detection test
GTR Test Accession: Help GTR000078597.3
Last updated in GTR: 2015-11-26
Last annual review date for the lab: 2021-01-29 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Familial amyloid neuropathy
Genes (1): Help
TTR (18q12.1)
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis; Restriction enzyme analysis
Amyloidosis patients
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
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
Completion of the laboratory referral letter by the referring physician/scientist. Provision of a signed informed consent form. Both forms are available on the laboratory website.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
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: 2
Method Category Help
Test method Help
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130xl genetic analyser
Targeted variant analysis
Restriction enzyme analysis
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Clinical utility: Help
Target population: Help
Amyloidosis patients
Recommended fields not provided:
Technical Information
Test Procedure: Help
PCR and NsiI restriction enzyme analysis of a 300 bp fragment spanning the Val 30 to Met mutation in the TTR gene on chromosome 18. Absence of the NsiI site (single 300 bp band) in the amplified PCR product shows that the above mutation does not exist in the sample. … View more
Test Confirmation: Help
different method or new sample
Test Comments: Help
Mutation: Val30Met
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% precise
Assay limitations: Help
This test detects small scale mutations but it will not detect a large scale deletion of an entire exon or the whole gene.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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