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Hereditary Transthyretin Amyloidosis (hATTR) Test

Test Description

Hereditary transthyretin amyloidosis (hATTR) is a slowly progressive, adult-onset neuromuscular condition, characterized by a gradual buildup of amyloid in different organs, tissues, and nerves.

This test evaluates for hereditary transthyretin amyloidosis through analysis of the TTR gene.

Genes Tested (1)


Important Panel Information

Turnaround time: 7-24 days

Preferred specimen: BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit

Shipping instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.

Affected individuals may be asymptomatic, or may gradually become symptomatic with autonomic neuropathy, peripheral sensorimotor neuropathy, restrictive cardiomyopathy, nephropathy, or in some cases effects to the central nervous system such as seizures, dementia, and psychosis. hATTR amyloidosis follows an autosomal dominant inheritance pattern.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

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