Gene

NSDHL - CHILD syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385

NSDHL - CHILD syndrome



€ 385

NSDHL - CHILD syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > CHILD syndrome
  • Conditions > Multiple congenital anomalies (MCA) > CHILD syndrome
  • Conditions > Hearing impairment > CHILD syndrome
  • Conditions > Skin > CHILD syndrome

This product is also part of the following panels:

  • WES intellectual disability (99.9% *)
  • WES Mendelian inherited disorders (99.9% *)
  • WES Mendelian inherited disorders (99.9% *)
  • WES metabolic disorders (99.9% *)
  • WES short stature/skeletal dysplasia (99.9% *)
  • WES skin disorders¹ (99.9% *)

* % 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: 300275
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385