FGD1 - Aarskog-Scott syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Faciogenital dysplasia (Aarskog-Scott syndrome)
  • Conditions > Multiple congenital anomalies (MCA) > Faciogenital dysplasia (Aarskog-Scott syndrome)
  • Conditions > Skeletal > Faciogenital dysplasia (Aarskog-Scott syndrome)

This product is also part of the following panels:

  • Craniofacial anomalies panel with genome wide CNV analysis
  • Epilepsy 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
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis

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

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Deletion/duplication analysis (MLPA)

OMIM: 300546
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 460
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Gene

FGD1 - Aarskog-Scott syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 460
View Add

FGD1 - Aarskog-Scott syndrome


€ 460
Add