Ophthalmology

Bardet Biedl Syndrome Panel

Overview

Test Name

Test Code

OPE1003

Test Category

Gene Panels

Test Subcategory

Ophthalmology

Disease(s) Targeted

Bardet Biedl syndrome

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of Bardet-Biedl syndrome.

Test Approach

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

No. of Genes

Panel Content

ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, IFT27, IFT74, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TTC8

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 Bardet Biedl syndrome

Bardet-Biedl syndrome is a rare genetic disorder causing vision loss, kidney problems, obesity, and developmental delays.

Bardet Biedl Syndrome 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 Bardet Biedl syndrome

Gene Panel Workflow

Consent, Test Request, and Sample Collection

Data Generation

Bioinformatics and Analysis

Reporting