Gene

RPS6KA3 - Coffin Lowry syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 671

RPS6KA3 - Coffin Lowry syndrome



€ 671

RPS6KA3 - Coffin Lowry syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Coffin-Lowry syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Coffin-Lowry syndrome

This product is also part of the following panels:

  • WES epilepsy (99.5% *)
  • WES intellectual disability (99.5% *)
  • WES Mendelian inherited disorders (99.5% *)
  • WES Mendelian inherited disorders (99.5% *)

* % 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)

OMIM: 303600
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 671