Gene

HOXA13 - Guttmacher syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

HOXA13 - Guttmacher syndrome



€ 344

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:

  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (98.8% *)
  • WES Mendelian inherited disorders (98.8% *)
  • WES short stature/skeletal dysplasia (98.8% *)

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

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




€ 344