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:

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




€ 352

Products Conditions Metabolic disorders Congenital disorder of glycosylation
Gene

SRD5A3 - congenital defect of glycosylation type Iq

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

SRD5A3 - congenital defect of glycosylation type Iq



€ 352