Basal cell nevus syndrome

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

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