Skin Disease and Cancer Genetic Panel
Hereditary skin condition and melanoma risk screening
What is this test?
Our Skin Disease and Cancer Genetic Panel screens over 100 genes associated with hereditary skin disorders and genetic predisposition to skin cancers, including familial melanoma, basal cell nevus syndrome, and genodermatoses. An accurate genetic diagnosis guides dermatological surveillance, cancer screening intensity, and, in some cases, targeted therapies.
Key Benefits
CDKN2A, CDK4, BAP1, POT1, and other high-penetrance melanoma genes are covered. Carriers benefit from intensified dermatologic surveillance.
Conditions like xeroderma pigmentosum involve defective UV-induced DNA repair, requiring strict sun avoidance and frequent skin checks from early childhood.
Some hereditary skin cancer genes also increase risk for internal malignancies (e.g., BAP1 — mesothelioma, renal cell carcinoma). The report flags all relevant surveillance recommendations.
Identifying a pathogenic variant allows cascade testing of at-risk family members who can then adopt preventive measures.
How It Works
Your dermatologist or genetic counselor assesses your personal and family history and orders the panel.
A blood draw or saliva sample is collected — no skin biopsy is required for the genetic test.
100+ skin-related genes are sequenced with high coverage, including genes for melanoma susceptibility, UV repair, and genodermatoses.
Variants are classified by molecular geneticists with dermatogenomics expertise using ACMG/AMP guidelines.
Report includes molecular findings, cancer risk estimates, recommended surveillance protocols, and sun protection guidance.
Who should consider this test?
- Individuals with a strong family history of melanoma (two or more first-degree relatives)
- Patients with multiple primary melanomas or early-onset melanoma (before age 40)
- Those with numerous dysplastic or atypical nevi
- Patients diagnosed with basal cell carcinoma at a young age or with multiple BCCs
- Individuals with hereditary skin conditions such as xeroderma pigmentosum or epidermolysis bullosa
Conditions Screened
Accuracy & Clinical Evidence
>99% analytical sensitivity for SNVs and small indels in targeted coding regions
CDKN2A mutations confer a 60–90% lifetime risk of melanoma. The NCCN recommends genetic counseling and consideration of genetic testing for individuals with features suggestive of familial melanoma. BAP1 mutation carriers require multi-organ surveillance including dermatologic, ophthalmologic, and renal assessments.
Scientific Detail
All coding exons and ±20 bp flanking intronic regions are sequenced. Melanoma susceptibility genes include high-penetrance (CDKN2A, CDK4, BAP1), moderate-penetrance (MITF p.E318K, POT1, TERT), and DNA repair genes (XPA through XPG, ERCC). Variants are classified per ACMG/AMP with additional ClinGen skin cancer expert panel criteria.
For Healthcare Providers
This panel sequences 100+ genes covering melanoma susceptibility, UV repair pathways, genodermatoses, and skin cancer predisposition syndromes. Mean coverage exceeds 100x on Illumina platform. CNV analysis is included for key genes. Comprehensive reporting includes InSiGHT and NCCN-aligned surveillance recommendations.
Important Limitations
- Polygenic risk scores for common melanoma are not included; this panel focuses on monogenic high-penetrance and moderate-penetrance variants.
- Environmental factors (UV exposure, sunburn history) are major melanoma risk factors that cannot be assessed genetically.
- Some hereditary skin conditions have overlapping clinical features; correlation with dermatologic examination is essential.
- Variants of uncertain significance may be reported, particularly in less well-characterized genes.
- Somatic mutations in existing skin lesions are not assessed by this germline panel.
Frequently Asked Questions
Test Details
Interested in this test?
Speak with our team to learn more about ordering this test or to get a consultation.
Get Started