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:

  • Craniofacial anomalies panel with genome wide CNV analysis
  • Hereditary cancer panel
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Orofacial clefting panel with genome wide CNV analysis
  • Skin disorders panel¹
  • Sonic hedgehog medulloblastoma panel

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
Add
Go to main content
Gene

PTCH1 - basal cell nevus syndrome, gorlin-goltz ¹

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

PTCH1 - basal cell nevus syndrome, gorlin-goltz ¹


€ 591
Add