Gene

POR - congenital adrenal hyperplasia, disordered steroidogenesis, Antley-Bixler type syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 427

POR - congenital adrenal hyperplasia, disordered steroidogenesis, Antley-Bixler type syndrome



€ 427

POR - congenital adrenal hyperplasia, disordered steroidogenesis, Antley-Bixler type syndrome

This test is available for the following conditions:

  • Conditions > Disorders in sex development > Antley-Bixler type syndrome
  • Conditions > Endocrine > Antley-Bixler type syndrome

This product is also part of the following panels:

  • WES disorders of sex development (97.1% **)
  • WES Mendelian inherited disorders (97.1% **)
  • WES short stature/skeletal dysplasia (97.1% **)

** % 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: 124015
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 427