Lentiginosis [10 genes]

Description
Prevalence
Clinical utility
Clinical indication

Lentigines are small hyperpigmented macules that can appear anywhere on the body at a generally young age and are not related to sun exposure. They have no risk of malignancy, and when they have a few, they can be considered phenotypically normal. However, several genetic diseases are typically associated with lentiginosis.

Unknown

This service includes the analysis of genetic alterations associated with various forms of lentiginosis. Therefore, in the presence of lentiginosis, this panel can be a good approximation in the diagnosis.

The benefits of a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of associated comorbidities, depending on the final diagnosis.

Indicated when a condition of lentiginosis is detected, regardless of the specific suspected diagnosis. However, a detailed clinical history is essential for a better genotype-phenotype correlation during genetic analysis.

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Lentiginosis

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202313134

Updated (dd/mm/yy): 17/10/2025

Lentiginosis: View panel

Virtual panel based on whole exome sequencing, aimed at the analysis of genes with moderate, high, and low evidence related to lentiginosis and those associated with differential diagnosis entities.

BRAF
KITLG
MAP2K1
MYH8
PRKAR1A
PTEN
PTPN11
RAF1
SASH1
STK11

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Carney complex.
LEOPARD syndrome.
Peutz-Jeghers syndrome

References

Stratakis CA, Raygada M. Carney Complex. 2003 Feb 5 [Updated 2018 Aug 16]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1286/
Gelb BD, Tartaglia M. Noonan Syndrome with Multiple Lentigines. 2007 Nov 30 [Updated 2022 Jun 30]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1383/
McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers Syndrome. 2001 Feb 23 [Updated 2021 Sep 2]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1266/

Lentiginosis [10 genes]

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