Test Code TTRZ TTR Gene, Full Gene Analysis, Varies
Ordering Guidance
Targeted testing (also called site-specific or known variants testing) is available for variants identified in the TTR gene. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Testing for TTR gene as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.
The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Neurology Patient Information
3. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:
-Cardiovascular Test Request Form (T724)
-Hematopathology/Cytogenetics Test Request (T726)
-Neurology Specialty Testing Client Test Request (T732)
-Renal Diagnostics Test Request (T830)
Useful For
Establishing a molecular diagnosis for patients with amyloidosis
Identifying variants within TTR known to be associated with amyloidosis, allowing for predictive testing of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in one gene associated with amyloidosis: TTR. See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for amyloidosis.
Disease States
- Amyloidosis
Special Instructions
Reporting Name
TTR Gene, Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitabilityReference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
14 to 21 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
81404
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
TTRZ | TTR Gene, Full Gene Analysis | 94225-0 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
617754 | Test Description | 62364-5 |
617755 | Specimen | 31208-2 |
617756 | Source | 31208-2 |
617757 | Result Summary | 50397-9 |
617758 | Result | 82939-0 |
617759 | Interpretation | 69047-9 |
618194 | Additional Results | 82939-0 |
617760 | Resources | 99622-3 |
617761 | Additional Information | 48767-8 |
617762 | Method | 85069-3 |
617763 | Genes Analyzed | 48018-6 |
617764 | Disclaimer | 62364-5 |
617765 | Released By | 18771-6 |