Cohen syndrome (COH1; MIM 216550) is an autosomal recessive developmental disorder caused by mutations in the VPS13B gene. It affects multiple organ systems. It is characterized predominantly by postnatal microcephaly, intellectual disability, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Additional findings may include obesity, mitral valve prolapse, hypotonia, and joint hypermobility.
read moreTests Available
By gene: VPS13B
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Next Generation Sequencing
$900
Test Code: 2454
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Deletion / Duplication
$900
Test Code: 2455
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NGS/Del Dup Comprehensive
$1,100
Test Code: 2456
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Test Details
Technical Information
Genes:
VPS13B
Disease Groups:
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Billing
CPT Codes:
81408 x 1
Ordering
SKU:
2454 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.