Branchiootorenal syndrome

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.

Tests Available

Forms and Documents

Test Details

EYA1
  • Confirmation of a clinical diagnosis
  • Differential diagnosis between other branchio and/or oto multiple malformation syndromes
  • Risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

315E
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x1
No
Yes
  • 744.02 Other anomalies of external ear with impairment of hearing Atresia or stricture of auditory canal (external)
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 744.2 Other specified anomalies of ear
* For price inquiries please email zebras@genedx.com

References

  1. Chang E. et. al. (2004). Hum Mutat 23:582-89.
  2. Smith, R. Branchiootorenal Syndrome. (Mar 2008).
  3. Fraser F et. al. (1980) Am J Med Genet 7: 341-349.
  4. Kochhar, A. et. al. (2008) Hum Mutat Mutation in Brief #999 Online.
  5. Sanggaard, K. et al. (2007) Eur J Hum Genet. 15:1121-1131.
  6. Stockley, T. et al. (2008) Am J Med Genet 149A:322-327.
  7. Ruf, R. et. al. (2004) PNAS. 101(21):8090-8095.

Forms and Documents

Test Details

SIX1
  • Confirmation of a clinical diagnosis
  • Differential diagnosis between other branchio and/or oto multiple malformation syndromes
  • Risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

317
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
  • 744.02 Other anomalies of external ear with impairment of hearing Atresia or stricture of auditory canal (external)
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 744.2 Other specified anomalies of ear
* For price inquiries please email zebras@genedx.com

References

  1. Chang E. et. al. (2004). Hum Mutat 23:582-89
  2. Smith, R. Branchiootorenal Syndrome. Disease Overview. In: GeneClinics: Clinical Genetic Information Resource [database online]
  3. Fraser F et. al. (1980) Am J Med Genet 7: 341-349
  4. Kochhar, A. et. al. (2008) Hum Mutat Mutation in Brief #999 Online
  5. Ruf, R. et. al. (2004) PNAS. 101(21):8090-8095
  6. Stockley, T. et al. (2008) Am J Med Genet 149A:322-327
  7. Sanggaard, K. et al. (2007) Eur J Hum Genet. 15:1121-1131