Cohen Syndrome

Cohen syndrome (CS) represents a complex developmental disorder. Commonly observed features include: microcephaly, mental retardation, childhood hypotonia, motor clumsiness and non-progressive psychomotor retardation, joint hyperextensibility, ophthalmologic findings such as progressive myopia, retinochoroidal dystrophy, and pigmentary retinopathy, truncal obesity with slender hands and feet, and intermittent neutropenia. The facial gestalt, which becomes more distinct with age, is characterized by a low anterior hairline, thick hair, eyebrows, and eyelashes, high-arched or wave-shaped eyelids, prominent, beak-shaped nose, low nasal bridge, short, upturned philtrum, and open-mouthed appearance. Cohen syndrome is especially common in the Finnish population due to a founder mutation. While the phenotype is relatively homogenous in Finnish patients, the clinical spectrum is much wider in non-Finnish patients.

Tests Available

Forms and Documents

Test Details

VPS13B (COH1)
  • Confirmation of clinical diagnosis
  • Carrier testing for family members of the affected individual
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

227
10-12 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81408x1
No
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 744.9 Unspecified anomalies of face and neck Congenital: anomaly NOS of face [any part] or neck [any part] deformity, NOS of face [any part] or neck [any part]
* For price inquiries please email zebras@genedx.com

References

  1. Kolehmainen, J. et al., (2004) Am J Hum Gene. 75:122-27
  2. Kolehmainen, J. et al., (2003) Am J Hum Genet 72:1359-69
  3. Hennies, H.C. et al., (2004) Am J Hum Gene. 75:138-45
  4. Mochida, G.H. et al., (2004) J Med Genet 41:e87
  5. Balikova et al., (2009) Hum Mutat 30:E845-E854
  6. Parri et al., (2010) Eur J Hum Genet Epub:1-8

Forms and Documents

Test Details

VPS13B (COH1)
  • Confirmation of clinical diagnosis
  • Carrier testing for family members of the affected individual
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

2271
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 744.9 Unspecified anomalies of face and neck Congenital: anomaly NOS of face [any part] or neck [any part] deformity, NOS of face [any part] or neck [any part]
* For price inquiries please email zebras@genedx.com

References

  1. Kolehmainen, J. et al., (2004) Am J Hum Gene. 75:122-27
  2. Kolehmainen, J. et al., (2003) Am J Hum Genet 72:1359-69
  3. Hennies, H.C. et al., (2004) Am J Hum Gene. 75:138-45
  4. Mochida, G.H. et al., (2004) J Med Genet 41:e87
  5. Balikova et al., (2009) Hum Mutat 30:E845-E854
  6. Parri et al., (2010) Eur J Hum Genet Epub:1-8