Antley-Bixler type syndrome

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 (100.0% *)
• WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES short stature/skeletal dysplasia (100.0% *)

* % 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

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