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
Requery (SOQO)
≤ 5 days
Genes Tested
1
Panel 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.
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Contact our clinical team to order this panel or learn more.
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 notes
N/A
Genomic build
GRCh38
Genes Tested
1 genes included in this panel
Ordering Information
Turnaround Time
Typically 6-21 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.
Clinical 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.
Ready to order this test?
Contact our clinical team to order the Hereditary Transthyretin Amyloidosis (hATTR) Test for your patients.