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Skin Cancer and Melanoma NGS Panels

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Skin cancer is one of the most common types of cancer. The main types of skin cancers are: basal-cell cancer (BCC), squamous-cell cancer (SCC) and melanoma.

The vast majority of skin cancer cases are caused by the exposure to ultraviolet radiation from the sun.

About 10% of melanoma cases have a family history of melanoma. Mutations in the CDKN2A, CDK4, and MITF genes can lead to higher risk of developing melanoma. Certain genetic conditions are associated with an increased risk of developing basal cell carcinoma (source:

Different NGS panels are listed on this page that target genes wherein mutations are related or believed to be related to elevate the risk for the development of skin cancer. 

For more information on the targeted genes please contact the NGS panel provider, general information on skin cancer and melanoma are found on this website.


Hereditary melanoma

Targeted genes CDKN2A, CDK4, BaP1, NBN

Source: Mendelics

Hereditary Melanoma Panel

Our Hereditary Melanoma Sequencing Panel includes sequence analysis of the following 8 genes: CDKN2A, BRCA2, CDK4, MC1R, BAP1, TP53, BRCA1 and WRN.
Source: The University of Chicago Genetic Services


Invitae Melanoma Panel

The Invitae Melanoma Panel analyzes up to 11 genes associated with a hereditary predisposition to melanoma. These genes were selected based on available evidence to provide Invitae’s most comprehensive test targeting hereditary melanoma.
In addition to the primary panel, clinicians can also choose to include three genes that have limited evidence of association with hereditary melanoma.
Source: Invitae

Melanoma Gene Set

Targeted genes: AKT1, ALK*, BAP1, BRAF, CDK4, CDKN2A, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR2*, FGFR3*, GNA11, GNAQ, HRAS, KIT, KRAS, MAP2K1, MAP2K2, MET, MTOR, NF1, NRAS, PDGFRA, PDGFRB, PIK3CA, PTEN, RAC1, RB1, RET*, ROS1* and TP53 (*rearrangements also detected)
Source: WUSTL

Melanoma Hereditary Cancer Panel

Melanoma Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 6 Genes
Source: Arup Laboratories

Melanoma NGS Panel

Source: Fulgent Diagnostics

Sentosa SQ Melanoma panel

Sentosa SQ Melanoma panel, the first NGS panel for the diagnosis of cancer relevant genes. Results generated by the Sentosa SQ reporting software will aid in clinical decision making for the treatment of cancer.
Source: Vela Diagnostics


Skin Cancer

Skin cancer panel, targeted

Tested genes CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, POT1, PTCH1, XRCC3

Source: Centogene


Xeroderma pigmentosum is an autosomal recessive disorder caused by mutations in the XPA, ERCC3, XPC, ERCC2, DDB2, ERCC4, and ERCC5 genes, which belong to the XPA, XPB, XPC, XPD, XPE, XPF, and XPG complementation groups, respectively.
Source: Prevention Genetics

This panel sequences the DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC genes.

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