Gene

HDAC4 - brachydactyly-intellectual disability syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 525

HDAC4 - brachydactyly-intellectual disability syndrome



€ 525

HDAC4 - brachydactyly-intellectual disability syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, syndromal
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, syndromal

This product is also part of the following panels:

  • WES intellectual disability (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES short stature/skeletal dysplasia (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: 605314
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 525
Gene

KCNK9 - Birk-Barel syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

KCNK9 - Birk-Barel syndrome



€ 336

KCNK9 - Birk-Barel syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, syndromal
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, syndromal

This product is also part of the following panels:

  • WES intellectual disability (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES orofacial clefting (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: 605874
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336