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Branchiootorenal Syndrome
Branchiootic Syndrome
EYA1 (Eyes absent homolog 1) Gene
SIX1 (SIX homeobox 1) Gene
It has been estimated that up to 82% of patients who meet strict diagnostic criteria for Branchiootorenal (BOR) Syndrome will have a mutation in the EYA1 gene. Of those, between 10 to 20% are expected to have a partial or whole gene deletion, which will be missed by DNA sequencing. Very few patients were found to have a mutation in the SIX1 gene.
Using genomic DNA from the submitted blood sample (1-5 mL in EDTA), GeneDx offers bi-directional sequence analysis of all coding exons and splice sites of the EYA1 gene (exons 3-18) along with concurrent targeted array CGH analysis with exon-level resolution (ExonArrayDx) to evaluate for a deletion or duplication of one or more exons of the EYA1 gene. Additionally, bi-directional sequence analysis of the coding regions and splice sites of the SIX1 gene (exons 1-2) is available. Mutation-specific testing of relatives and prenatal diagnosis in at-risk pregnancies is available once a mutation/deletion in a family has been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
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