Gene

KAT6B - Ohdo syndrome, SBBYSS variant

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

KAT6B - Ohdo syndrome, SBBYSS variant



€ 509

KAT6B - Ohdo syndrome, SBBYSS variant

This test is available for the following conditions:

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

This product is also part of the following panels:

  • Congenital heartdisease panel¹
  • Craniofacial anomalies panel
  • Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Short stature/skeletal dysplasia panel
  • Skin disorders panel¹

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

Method

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

OMIM: 605880
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 509
Gene

MED12 - X-linked Ohdo syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 558

MED12 - X-linked Ohdo syndrome



€ 558

MED12 - X-linked Ohdo syndrome

This test is available for the following conditions:

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

This product is also part of the following panels:

  • Craniofacial anomalies panel
  • Epilepsy panel
  • Intellectual disability panel
  • Liver disorders panel
  • Mendelian inherited disorders panel
  • Skin disorders panel¹
  • Tall stature panel

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

Method

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

OMIM: 300188
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 558