Nephrology

Hereditary Systemic Amyloidosis Panel

Overview

Test Name

Test Code

NEE1008

Test Category

Gene Panels

Test Subcategory

Nephrology

Disease(s) Targeted

Hereditary systemic amyloidosis

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of hereditary systemic amyloidosis.

Test Approach

Whole exome sequencing (WES) with in silico gene panel analysis.

No. of Genes

Panel Content

APOA1, APOA2, APOC2, FGA, GSN, LYZ, TTR

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

~3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Hereditary systemic amyloidosis

Hereditary systemic amyloidosis is an inherited condition where mutated proteins, often transthyretin (TTR), misfold into harmful fibrils that deposit in organs, causing dysfunction and failure. It is an autosomal dominant disease, meaning a single copy of the altered gene from either parent can cause the condition. The most common type is hereditary transthyretin amyloidosis (ATTR), but other hereditary forms involve variants in genes for apolipoproteins A-I (APOA1), A-II (APOA2), C-II (APOC2), fibrinogen (FGA), gelsolin (GSN) and lysozyme (LYZ).

Hereditary Systemic Amyloidosis Panel

Overview

Test Name

Test Code

Test Category

Test Subcategory

Disease(s) Targeted

Who Is The Test For?

Test Approach

No. of Genes

Panel Content

Deliverables

Turnaround Time

Specimen Requirements

About Hereditary systemic amyloidosis

Gene Panel Workflow

Consent, Test Request, and Sample Collection

Data Generation

Bioinformatics and Analysis

Reporting