Gene

MKKS - McKusick-Kaufman syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 386

MKKS - McKusick-Kaufman syndrome



€ 386

MKKS - McKusick-Kaufman syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > McKusick-Kaufman syndrome

This product is also part of the following panels:

  • WES ciliopathies (83.2% **)
  • WES disorders of sex development (83.2% **)
  • WES intellectual disability (83.2% **)
  • WES Mendelian inherited disorders (83.2% **)
  • WES renal disorders (83.2% **)
  • WES vision disorders (83.2% **)

** % 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

OMIM: 604896
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 386