Albinism is characterized by specific ocular changes resulting from insufficient melanin biogenesis in the eye during development. Optical changes including decreased visual acuity, deviation of the optic nerves in the chiasmatic region, and nystagmus, accompany the decrease in pigment in the iris and retina.
We recommend this service to obtain a confirmatory genetic diagnosis when the clinical diagnosis is certain.
Obtaining a definitive diagnosis is of great help in establishing appropriate follow-up.
Service indicated when the clinical suspicion of having oculocutaneous albinism is very high. Otherwise, it is preferable to opt for a broader panel, such as that of the Albinism service.
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
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):
Ref. S-202313114
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.
Oculocutaneous albinism
