Ophthalmology
Designed to identify the genetic causes of various eye diseases, including major blindness causes in infants, children, and adults. It encompasses a range of conditions like congenital glaucoma, retinitis pigmentosa, Stargardt disease, and albinism, among others, offering comprehensive genetic screening for eye-related disorders.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Achromatopsia
- Albinism
- Bardet-Biedl syndrome
- Cataract
- Cone-rod and cone dystrophy
- Flecked retina
- Glaucoma
- Hermansky-Pudlak syndrome
- Leber congenital amaurosis
- Meckel syndrome
- Microphthalmia/anophthalmia/coloboma spectrum
- Oculomotor apraxia
- Optic atrophy
- Progressive external ophthalmoplegia
- Retinitis pigmentosa, autosomal dominant
- Retinitis pigmentosa, autosomal recessive
- Stargardt disease
- Stickler syndrome
- Usher syndrome
- Vitreoretinopathy
- Wagner syndrome
