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Hereditary Transthyretin Amyloidosis (hATTR) Test

A targeted analysis of the TTR gene for diagnosing hereditary transthyretin amyloidosis, powered by the Helix Exome+® platform for precise variant detection.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

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.

View the complete description of this test

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

Indications for Testing

Providing a genetic evaluation for individuals with a personal and/or family history suggestive of hereditary transthyretin amyloidosis. Establishing a diagnosis of hereditary transthyretin amyloidosis.

Methodology

This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in the TTR gene, which is associated with hereditary transthyretin amyloidosis.

Technical Specifications

Analytical sensitivity (SNV)> 99%Analytical sensitivity (indel)> 99%Analytical specificity> 99%CNV sensitivity (multi-exon)> 99%CNV sensitivity (single-exon)> 90%Gene notesN/AGenomic buildGRCh38

Genes Tested

TTR

Showing 1 of 1 genes in this panel

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Important Panel Information

Turnaround time: Typically 7-21 days (standard), Typically < 5 days (requery)

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.