Hereditary Melanoma and Skin Cancer Panel

Overview

Test Name

Hereditary Melanoma and Skin Cancer Panel

Test Code

HCE1009

Test Category

Gene Panels

Test Subcategory

Hereditary Cancer

Disease(s) Targeted

Melanoma and Skin Cancer

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of Melanoma and Skin Cancer.

Test Approach

Whole exome sequencing (WES) with in silico gene panel analysis

No. of Genes

Panel Content

ACD, BAP1, BRCA1, BRCA2, CDK4, CDKN2A, DDB2, ERCC2, ERCC3, ERCC4, ERCC5, MITF, POT1, PTCH1, PTEN, SUFU, TERF2IP, TERT, TP53, WRN, XPA, XPC

Mitochondrial Genome Included In The Analysis

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

~3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Melanoma and Skin Cancer

Cancers arising in the skin include basal-cell cancer, squamous cell cancer, and melanoma. While skin cancer is primarily caused by environmental factors like ultraviolet radiation from exposure to sun light or tanning beds, inherited genetic predispositions can also play a role. Hereditary melanoma is a familial form of the cancer, meaning that a gene with a genetic variant is passed down through generations, increasing the likelihood of melanoma in family members. About 10% of melanomas may be due to an inherited predisposition.

Hereditary melanoma is characterised by a higher incidence of melanoma in multiple first-degree relatives (parents, siblings, children).Variants in the CDKN2A gene are the most common genetic cause of familial melanoma, however other genes involved in cell growth and DNA repair, such as BRCA1 and BRCA2, can also increase risk for various skin cancers, including melanoma.