| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Gene Dx, EYA1 Del/Dup, EYA1 and SIX1 Gene Analysis in Branchiootorenal (BOR)/ Branchiootic (BO) Syndrome
MessageCollect at NMCP only Mon-Thursday by 1200
Test Code
906
Alias/See Also
Branchiootorenal Dysplasia, Melnick-Fraser Syndrome, Eyes absent homolog 1
CPT Codes
81405x1
Preferred Specimen
2-5 mL Blood - Lavender Top Tube
Minimum Volume
A single tube with 1-5 mL whole blood in EDTA.
Instructions
Ship overnight at ambient temperature, using a cool pack in hot weather. Specimens may be refrigerated for 7 days prior to shipping.
Transport Temperature
ambient
Methodology
Exon Array CGH: Analysis is performed by bi-directional sequencing of all coding exons (exons 3-18) and splice sites of the EYA1 gene. Concurrently, targeted array CGH analysis with exon-level resolution (ExonArrayDx) is performed to evaluate for a deletion or duplication of one or more exons of this gene. Additionally, bi-directional sequencing of the coding regions and splice sites of the SIX1 gene (exons 1 and 2) is available. Mutations/deletions/duplications found in the first person of a family to be tested are confirmed by repeat analysis using sequencing, restriction fragment analysis, qPCR or another appropriate method.
Report Available
3-4 weeks
Clinical Significance
BOR (Branchiootorenal) syndrome, which clinically overlaps with branchiootic syndrome, is characterized by multiple malformations clinically diagnosed by the following major criteria: second branchial arch anomalies, deafness, preauricular pits, auricular deformities and renal anomalies (ranging from mild to severe or complete absence of kidneys). Minor criteria include: external auditory canal anomalies, middle or inner ear anomalies, preauricular tags and others. To be diagnosed there must be 2 affected individuals in the family; or the individual must display 3 or more of the major criteria, or 2 major and 2 minor criteria. Both reduced penetrance and variable expressivity have been observed. The estimated prevalence of BOR syndrome is 1:40,000 in the general population and ~2% among profoundly deaf children. Hearing impairment can be mild to severe and can be conductive, sensorineural or mixed. Inheritance pattern: Autosomal Dominant. Approximately 10% of cases are caused by a de novo mutation. Reasons for referral: Confirmation of a clinical diagnosis. Differential diagnosis between other branchio and/or oto multiple malformation syndromes. Genetic counseling and risk assessment. Prenatal diagnosis.
