TTR Gene, Full Gene Analysis

Synonyms

  • ATTRZ
  • LAB11570
  • TRANSTHYRETIN GENE, FULL GENE ANALYSIS

Cerner Name

TTR Gene, Full Gene Analysis

Clinical Info

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

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for amyloidosis.

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous Oral Cavity Placenta

Specimen Types

Blood Chorionic Villus Swab Tissue

Specimen Volume

Specimen: 3 mL (0.5 mL min) Send Original Tube

Container

Sterile

Collection Instructions

Specimen preferred to arrive within 96 hours of collection.
Container/Tube: Lavender (EDTA) or Yellow (ACD Tube
Specimen: 3 mL (0.5 mL min) Send Original Tube
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Transport Instructions

Room temperature

Specimen Stability

Methodology

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Days Performed

TAT: 29-43 Days

Performing Laboratories

Mayo Medical Laboratories

CPT

81404
LOINC Code 94225-0

PDM

2159700

Results
Component Name Base Name Common Name External Name
TTR GENE TEST DESCRIPTION TTRGNDES TTR GENE TEST DESCRIPTION TTR Gene Test Description
TTR GENE SPECIMEN TTRGNSPEC TTR GENE SPECIMEN TTR Gene Specimen
TTR GENE SOURCE TTRGNSRCE TTR GENE SOURCE TTR Gene Source
TTR GENE RESULT SUMMARY TTRGNSUM TTR GENE RESULT SUMMARY TTR Gene Result Summary
TTR GENE RESULT TTRGN TTR GENE RESULT TTR Gene Result
TTR GENE INTERPRETATION TTRGNINT TTR GENE INTERPRETATION TTR Gene Interpretation
TTR GENE ADDITIONAL RESULTS TTRGN TTR GENE ADDITIONAL RESULTS TTR Gene Additional Results
TTR GENE RESOURCES TTRGNRES TTR GENE RESOURCES TTR Gene Resources
TTR GENE ADDITIONAL INFORMATION TTRGNAI TTR GENE ADDITIONAL INFORMATION TTR Gene Additional Information
TTR GENE METHOD TTRGNMET TTR GENE METHOD TTR Gene Method
TTR GENE GENES ANALYZED TTRGN TTR GENE GENES ANALYZED TTR Gene Genes Analyzed
TTR GENE DISCLAIMER TTRGNDIS TTR GENE DISCLAIMER TTR Gene Disclaimer
TTR GENE RELEASED BY TTRGNREL TTR GENE RELEASED BY TTR Gene Released By

Result Interpretation

An interpretive report will be provided.

Interpretation:

All detected variants are evaluated according to American College of Medical Genetics and Genomics

recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and

reported with interpretive comments detailing their potential or known significance.

Forms
Molecular-send outs LAB11570 build edit