OFD1 - Simpson-Golabi_Behmel syndrome type 2

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Simpson-Golabi-Behmel syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Simpson-Golabi-Behmel syndrome
  • Conditions > Hearing impairment > Simpson-Golabi-Behmel syndrome
  • Conditions > Skeletal > Simpson-Golabi-Behmel syndrome

This product is also part of the following panels:

  • Ciliopathies panel
  • Craniofacial anomalies panel with genome wide CNV analysis
  • Epilepsy panel
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Orofacial clefting panel with genome wide CNV analysis
  • Renal disorders panel
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • 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: 300209
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 509
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Gene

OFD1 - Simpson-Golabi_Behmel syndrome type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 509
View Add

OFD1 - Simpson-Golabi_Behmel syndrome type 2


€ 509
Add