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 comprehensive preconception carrier test ¹
  • WES craniofacial anomalies (% *)
  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES Mendelian inherited disorders (% *)
  • WES short stature/skeletal dysplasia (% *)

* % 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
  • Deletion/duplication analysis (MLPA)
Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

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




€ 427

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