An ophthalmic genetic test analyses a patient's DNA to identify specific genetic mutations linked to hereditary ocular disorders. Using advanced techniques, these tests precisely detect pathogenic variants associated with different eye conditions. This genetic insight supports ophthalmologists and healthcare providers in confirming clinical diagnoses, predicting disease progression, offering tailored therapeutic interventions, and recommending suitable clinical trials.
| Genetics | Description | |
|---|---|---|
| Monogenic Disorders | Hundreds of inherited disorders affect various parts of the eye, from the anterior to the posterior segments and caused by autosomal dominant, autosomal recessive, or X-linked mutations exhibit genetic and clinical heterogeneity. Digenic forms have also been reported. | |
| Complex/Polygenic Disorders | Multifactorial diseases, such as glaucoma, age-related macular degeneration, keratoconus, and cataracts, are caused by combinations of genetic and non-genetic factors. Population-specific variants contribute to disease risk. | |
| Common Genetic Ophthalmic Disorders | Monogenic: Corneal dystrophies, Albinism, Norrie disease, retinoschisis, choroideremia, inherited retinal degenerative diseases (non-syndromic and syndromic), inherited optic neuropathies, colour vision deficiencies, retinoblastoma. Developmental: Anterior segment dysgenesis, aniridia, anophthalmos/microphthalmos/nanophthalmos coloboma. Complex: Cataract, keratoconus, fuchs endothelial corneal dystrophy, age-related macular degeneration glaucoma, pseudoexfoliation syndrome, diabetic retinopathy. |
Leber Congenital Amaurosis – MGM252 / MGM705
Congenital Stationary Night Blindness – MGM249 / MGM704
Optic Atrophy – MGM256 / MGM707
Retinal Degeneration – MGM257 / MGM708
Usher Syndrome – MGM259 / MGM709
Choroideremia (CHM) – MGM348
Norrie Disease (NDP Deletion/Duplication) – MGM510
Microphthalmia & Anophthalmia – MGM254 / MGM706
Congenital / Developmental Glaucoma – MGM247
Joubert Syndrome – MGM153 / MGM683
Bardet-Biedl Syndrome – MGM244 / MGM702
Duane Retraction Syndrome – MGM1429
Congenital Cataracts – MGM245 / MGM703
Corneal Dystrophies – MGM303 / MGM723
Oculocutaneous Albinism – MGM023
Clinical Exome – MGM272
Whole Exome Sequencing – MGM274
Comprehensive Ophthalmic Panel – MGM2634
RB1 Gene Analysis – MGM221
RB1 Deletion / Duplication Analysis – MGM222
Genetic testing enables early identification of inherited eye disorders, allowing timely intervention and better disease management.
Covers over 721 genes associated with a wide range of inherited ophthalmic conditions.
Detects clinically relevant variants in regulatory and intronic regions.
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