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:

  • WES congenital heartdisease ¹ (100.0% *)
  • WES craniofacial anomalies (100.0% *)
  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
  • WES intellectual disability (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES short stature/skeletal dysplasia (100.0% *)
  • WES skin disorders¹ (100.0% *)

* % 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: 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:

  • WES craniofacial anomalies (99.8% *)
  • WES epilepsy (99.8% *)
  • WES intellectual disability (99.8% *)
  • WES Mendelian inherited disorders (99.8% *)
  • WES skin disorders¹ (99.8% *)

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




€ 558