Gene

ABHD5 - Chanarin-Dorfman syndrome *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
*Maastricht UMC+
€ 369

ABHD5 - Chanarin-Dorfman syndrome *



€ 369

ABHD5 - Chanarin-Dorfman syndrome *

This test is available for the following conditions:

  • Conditions > Skin > Chanarin-Dorfman syndrome

This product is also part of the following panels:

  • WES comprehensive preconception carrier test *
  • WES intellectual disability (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)
  • WES metabolic disorders (100.0% **)
  • WES skin disorders* (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

OMIM: 604780
Performing laboratory: *Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369