Invitae Branchiootorenal Spectrum Disorders Panel


Test description

The Invitae Branchiootorenal Spectrum Disorders Panel analyzes two genes that are associated with branchiootorenal (BOR) syndrome and branchiootic syndrome (BOS). These genes were selected based on the available evidence to date to provide appropriate testing for the BOR and BOS phenotypic spectrum. Genetic testing can provide an accurate diagnosis, which may help guide medical management and surveillance decisions, predict disease progression and outcome, and indicate the recurrence risk.

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Primary panel (2 genes)


Add-on Townes-Brocks syndrome gene (1 gene)

Individuals with Townes-Brocks syndrome have highly variable phenotypic presentations and share ocular and renal system involvement with BOR and BOS. Given the significant overlap between the branchiootorenal spectrum disorders and Townes-Brocks syndrome, as well as the difficulty in differentiating between these disorders, analyzing the SALL1 gene, which is associated with Townes-Brocks syndrome, may be appropriate. The SALL1 gene can be included at no additional charge.


Branchiootorenal spectrum disorders include branchiootic syndrome (BOS) and branchiootorenal (BOR) syndrome, which are characterized by hearing loss, structural defects of the ear, and branchial fistulas or cysts. Individuals with BOR syndrome also present with a range of renal abnormalities, such as renal hypoplasia, renal agenesis, renal dysplasia, renal cysts, vesicoureteral reflux, and hydronephrosis, which often lead to end-stage renal failure later in life.

Pathogenic variants in EYA1 account for 40% of branchiootorenal syndrome cases. Pathogenic variants in SIX1 account for 5% of branchiootorenal syndrome cases.

Branchiootorenal spectrum disorders are inherited in an autosomal dominant manner.

Penetrance for EYA1 and SIX1 is complete.

The prevalence of branchiootorenal spectrum disorders is estimated at 1 in 40,000 individuals.

This panel may be appropriate for confirmation of a clinical diagnosis or to establish a diagnosis in an individual with suspected branchiootorenal syndrome or branchiootic syndrome.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
EYA1 NM_000503.5
SALL1 NM_002968.2
SIX1 NM_005982.3