The service includes the genes of the main genetic diseases that cause hypopigmented skin lesions, namely:
When hypopigmented skin lesions and/or hypopigmentation of skin annexes are detected and raise suspicion of any of the genetic diseases indicated above, it is recommended to request this service. The panel includes all the genes involved in this group of diseases.
The benefits derived from a genetic diagnosis in this context can range from family genetic counseling to the prevention of comorbidities associated with many of these diseases, some of them potentially lethal, such as Griscelli syndrome type 2.
Indicated when in the presence of hypopigmented skin lesions, their number, location, or morphological characteristics suggest an underlying genetic disease.
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
3) Pack the sample
Please pack the sample in a way to prevent leakage
4) Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5) Result: the report
Via: e-mail and/or through the customer portal
"*" indicates required fields
Turnaround time (TAT): 25 days
Ref. S-202313136
Updated (dd/mm/yy): 14/11/2025
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of genes related to the diseases, syndromic or not, that may cause hypopigmented skin lesions.
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.
