Microphthalmia-anophthalmia-coloboma (MAC) consists of a phenotypic spectrum of congenital eye defects that usually are detected at birth, although mild forms and certain colobomas are identified later. This broad panel of 369 genes includes all pathologies that, as part of their phenotype, associate at least one of the following clinical data (regardless of the other phenotypic manifestations that said pathologies may present):
This service includes all syndromic or non-syndromic entities that associate any of these 4 clinical signs in their phenotype. Therefore, when a clinical sign is manifested or a diagnosis has not been reached after other genetic studys, this panel would be recommended.
In the face of complex entities that are difficult to diagnose both in a first evaluation and after multiple previous examinations, the detection of the clinical signs contemplated in this panel can mark the way to begin (or continue) genetic studies. If your patient has microphthalmia, anophthalmia, or coloboma with a genetic origin, this test may be the appropriate way to resolve the case.
The panel is indicated when we consider microphthalmia, anophthalmia, or coloboma a guiding clinical sign to reach the diagnosis or when this has not been achieved after other examinations previously carried out for this purpose.
1) Download & fill out
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2) Sample collection
See sample types in the guidelines
3) Pack the sample
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4) Send the sample & the request
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5) Result: the report
Via: e-mail and/or through the customer portal
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Turnaround time (TAT):
Ref. S-202313121
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes that may associate microphthalmia, nanophthalmia, anophthalmia, or coloboma among their manifestations. In syndromic patients, in whom a diagnosis has not been reached through this panel or thanks to other complementary examinations previously carried out, it would be recommended to extend the study to a complete exome directed by phenotype.
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.
