SRD5A3 - congenital defect of glycosylation type Iq

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Congenital disorder of glycosylation
  • Conditions > Metabolic disorders > Congenital disorder of glycosylation
  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation
  • Conditions > Vision impairment / blindness > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Skin disorders panel¹

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

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 611715
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 352
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Gene

SRD5A3 - congenital defect of glycosylation type Iq

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 352
View Add

SRD5A3 - congenital defect of glycosylation type Iq


€ 352
Add