Gene

KAT6B - genitopatellar syndrome

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

KAT6B - genitopatellar syndrome



€ 509

KAT6B - genitopatellar syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Genitopatellar syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Genitopatellar 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 (% *)

* % 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