CHD7 - CHARGE syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > CHARGE syndrome
  • Conditions > Multiple congenital anomalies (MCA) > CHARGE syndrome
  • Conditions > Hearing impairment > CHARGE syndrome
  • Conditions > Endocrine > CHARGE syndrome
  • Conditions > Vision impairment / blindness > CHARGE 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
  • Hearing impairment panel (including GJB2)
  • Heart disorders panel¹
  • Hypogonadotropic hypogonadism (Kallmann) panel
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Orofacial clefting panel with genome wide CNV analysis
  • Primary immunodeficiencies panel
  • Vision disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
Remarks
MLPA analysis only upon request.

OMIM: 608892
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 649
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Gene

CHD7 - CHARGE syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 649
View Add

CHD7 - CHARGE syndrome


€ 649
Add