VPS13B - Cohen Syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Cohen syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Cohen syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Primary immunodeficiencies panel
  • Skin disorders panel¹
  • Vision disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 607817
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 962
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Gene

VPS13B - Cohen Syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 962
View Add

VPS13B - Cohen Syndrome


€ 962
Add