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
Blood
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
