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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, [...]
+ Mutation-specific testing + Prenatal testingCohen 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.
+ Mutation-specific testing + Prenatal testingTests Available
- VPS13B (COH1) Gene Sequencing
- VPS13B (COH1) Targeted (Finnish mutation) Gene Sequencing
- VPS13B (COH1) Del/Dup
VPS13B (COH1) Gene Sequencing
FORMS AND DOCUMENTS
TEST DETAILS
- Genes:
- VPS13B (COH1)
- Clinical Utility:
-
- Confirmation of clinical diagnosis
- Carrier testing for family members of the affected individual
- Prenatal diagnosis in at-risk pregnancies
- Lab Method:
- Capillary Sequencing Reflex to Exon Array CGH
ORDERING
- Test Code:
- 227
- Turnaround Time:
- 10-12 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81479x1
- List Price:
- $5,800.00
- Billing Information:
- View Neurology Billing Policy
- ICD Codes:
-
- 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]
REFERENCES
- Kolehmainen, J. et al., (2004) Am J Hum Gene. 75:122-27
- Kolehmainen, J. et al., (2003) Am J Hum Genet 72:1359-69
- Hennies, H.C. et al., (2004) Am J Hum Gene. 75:138-45
- Mochida, G.H. et al., (2004) J Med Genet 41:e87
- Balikova et al., (2009) Hum Mutat 30:E845-E854
- Parri et al., (2010) Eur J Hum Genet Epub:1-8
