• Test Code:
    1175
  • Department:
  • Test Synonyms:
    TransthyretinTransthyretin amyloidosis
  • CPT Code(s):
    81404
Background:

Transthyretin amyloidosis affects multiple systems and caused by mutations in the gene transthyretin (TTR).  This rare condition is inherited in an autosomal dominant pattern and the exact disease prevalence is not known.  The disease onset typically begins between 30-50 years of age with clinical symptoms including neuropathy and cardiomyopathy with arrhythmia.  The Sanger sequencing tests for all protein coding regions for this gene as well as the exon boundaries; the most common pathogenic variant for TTR associated with this condition is Val30Met.  Given the inheritance mechanism and late onset of the disease, it is recommended testing other family members for pathogenic variants.

Reasons for Referral:

  • Clinical symptoms including: cardiac conduction block, cardiomyopathy, nephropathy, vitreous opacities.
  • Family member testing.

Methodology:

Sequencing for TTR is carried out by amplification of all 4 exons and intron/exon boundaries followed by bi-directional Sanger sequencing.  The sensitivity of full gene sequencing is estimated to be approximately 99% for single nucleotide substitutions and small insertions/deletions.  All nucleotide changes are analyzed within the context of current databases and literature to predict pathogenicity.

Specimen Requirements:

Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 2-3mL
  • Infant: 1-2mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

14-21 days

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

Learn More