TTR Gene, Full Gene Analysis ATTRZ

Synonyms
Allscripts (AEHR) Order Name	TTR Gene, Full Gene Analysis
Sunrise Clinical Manager (SCM) Order Name	Transthyretin 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 Type
Container	Lavender Top Tube
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 Transport Temperature: Room Temperature 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
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 Laboratory	Mayo Medical Laboratories
CPT	81404 LOINC Code 94225-0
PDM	2159700
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