Gene

OFD1 - Simpson-Golabi_Behmel syndrome type 2

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

OFD1 - Simpson-Golabi_Behmel syndrome type 2



€ 509

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:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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