Gene

PTCH1 - basal cell nevus syndrome, gorlin-goltz ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 591

PTCH1 - basal cell nevus syndrome, gorlin-goltz ¹



€ 591

PTCH1 - basal cell nevus syndrome, gorlin-goltz ¹

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Basal cell nevus syndrome
  • Conditions > Cardiovascular > Basal cell nevus syndrome
  • Conditions > Skin > Basal cell nevus syndrome
  • Conditions > Oncogenetics > Basal cell nevus syndrome

This product is also part of the following panels:

  • WES craniofacial anomalies (100.0% *)
  • WES hereditary cancer (100.0% *)
  • WES intellectual disability (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES orofacial clefting (100.0% *)
  • WES skin disorders¹ (100.0% *)
  • WES sonic hedgehog medulloblastoma (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: 109400
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 591