Guttmacher syndrome

HOXA13 - Guttmacher syndrome

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Guttmacher syndrome

This product is also part of the following panels:

• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Short stature/skeletal dysplasia panel with genome wide CNV analysis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

Remarks
Please, send EDTA blood for HOXA13 gene test because of polyalanine expansion detection.

OMIM: 142959
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood

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