©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMelanomas, familial + uveal; differential diagnosis


Short information

Comprehensive differential diagnostic panel for familial Melanoma, cutaneous + uveal, containing 5 core and core candidate genes and altogether 14 curated genes according to the clinical signs

Number of genes
13 Accredited laboratory test
Examined sequence length
6,5 kb (Core-/Core-canditate-Genes)
34,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BAP12190NM_004656.4AD, Sus
CDK4912NM_000075.4AD, Sus
CDKN2A471NM_000077.5AD, Sus
BRCA15592NM_007294.4AR, Sus
BRCA210257NM_000059.4AR, Sus
PALB23561NM_024675.4AD, Sus
PTEN1212NM_000314.8AD, Sus

Informations about the disease

Clinical Comment

Malignant melanoma begins in melanocytes in areas that are only occasionally exposed to the sun as cutaneous melanoma or rarely in other tissues (choroidal or mucosal melanoma), most commonly in the fifties to seventies of life. Melanoma may develop from an existing mole or other normal skin growth, become cancerous in the epidermis and even metastasize. Melanoma is also common in genetic syndromes such as xeroderma pigmentosum, among others. Most familial melanomas are inherited in an autosomal dominant manner. The DNA diagnostic yield is largely unknown. Therefore, an inconspicuous molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK390611/



  • Alias incl.: Aderhautmelanom, Aderhaut-Melanom
  • Alias: Familial melanoma
  • Allelic: Albinism, oculocutaneous, type II, modifier of (MC1R)
  • Allelic: Analgesia from kappa-opioid receptor agonist, female-specific (MC1R)
  • Allelic: Breast cancer, male, susceptibility to (BRCA2)
  • Allelic: Breast cancer, susceptibility to (PALB2)
  • Allelic: Breast cancer, susceptibility to (XRCC3)
  • Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: COMMAD syndrome (MITF)
  • Allelic: Dyskeratosis congenita, AD 2 (TERT)
  • Allelic: Dyskeratosis congenita, AR 4 (TERT)
  • Allelic: Fanconi anemia, complementation group D1 (BRCA2)
  • Allelic: Fanconi anemia, complementation group N (PALB2)
  • Allelic: Fanconi anemia, complementation group S (BRCA1)
  • Allelic: Glioblastoma 3 (BRCA2)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Glioma susceptibility 9 (POT1)
  • Allelic: Leukemia, acute myeloid (TERT)
  • Allelic: Lhermitte-Duclos disease (PTEN)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Medulloblastoma (BRCA2)
  • Allelic: Melanoma + neural system tumor syndrome (CDKN2A)
  • Allelic: Melanoma-pancreatic cancer syndrome (CDKN2A)
  • Allelic: Meningioma (PTEN)
  • Allelic: Pancreatic cancer 2 (BRCA2)
  • Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
  • Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
  • Allelic: Prostate cancer (BRCA2)
  • Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
  • Allelic: Skin/hair/eye pigmentation 2, blond hair/fair skin (MC1R)
  • Allelic: Skin/hair/eye pigmentation 2, red hair/fair skin (MC1R)
  • Allelic: Tietz albinism-deafness syndrome (MITF)
  • Allelic: UV-induced skin damage (MC1R)
  • Allelic: Waardenburg Syndrom 2A (MITF)
  • Allelic: Waardenburg syndrome, type 2A (MITF)
  • Allelic: Waardenburg syndrome/ocular albinism, digenic (MITF)
  • Allelic: Wilms tumor (BRCA2)
  • Cowden syndrome 1 (PTEN)
  • Cutaneous melanoma predisposition (CDKN2A, CDK4, MC1R, MITF)
  • Dyskeratosis congenita, AD 6 (ACD)
  • Dyskeratosis congenita, AR 7 (ACD)
  • Familial melanoma (TERF2IP)
  • Melanoma, cutaneous malignant, 2 (CDKN2A)
  • Melanoma, cutaneous malignant, 3 (CDK4)
  • Melanoma, cutaneous malignant, 5 (MC1R)
  • Melanoma, cutaneous malignant, 6 (XRCC3)
  • Melanoma, cutaneous malignant, 9 (TERT)
  • Melanoma, cutaneous malignant, susceptibility to, 10 (POT1)
  • Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
  • Tumor predisposition syndrome (BAP1)
  • Uveal melanoma predisposition (BRCA1, BRCA2, MBD4, PALB2)
  • Uveal melanoma, AML, colonic polyps, glioblastoma [panelapp] (MBD4)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • n.k.
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined