Gene

KIT - piebaldism

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 460

KIT - piebaldism



€ 460

KIT - piebaldism

This test is available for the following conditions:

  • Conditions > Skin > Piebaldism

This product is also part of the following panels:

  • panel gastro-intestinal stroma tumor (KIT, PDGFRA)
  • WES hereditary cancer (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES skin disorders¹ (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
  • Deletion/duplication analysis (MLPA)

OMIM: 164920
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 460
Gene

SNAI2 - piebaldism

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

SNAI2 - piebaldism



€ 369

SNAI2 - piebaldism

This test is available for the following conditions:

  • Conditions > Skin > Piebaldism

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES craniofacial anomalies (100.0% *)
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES skin disorders¹ (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
  • Deletion/duplication analysis (MLPA)

OMIM: 602150
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369