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 with genome wide CNV analysis
  • Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • 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
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Gene

KAT6B - genitopatellar syndrome

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

KAT6B - genitopatellar syndrome


€ 509
Add