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:

  • Comprehensive preconception carrier test panel¹
  • Craniofacial anomalies panel
  • Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
  • Mendelian inherited disorders 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)
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
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POR - congenital adrenal hyperplasia, disordered steroidogenesis, Antley-Bixler type syndrome

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

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


€ 427
Add