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
  • Epilepsy panel
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Orofacial clefting panel
  • Short stature/skeletal dysplasia panel

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

Gene

FGD1 - Aarskog-Scott syndrome

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

FGD1 - Aarskog-Scott syndrome



€ 460