By Disease

Ophthalmology

CODE TEST NUMBER OF GENES COVERED METHOD TAT
MGM244 Bardet-Biedl syndrome gene panel 21 NGS 3 WEEKS
MGM245 Congenital cataract gene panel 40 NGS 3 WEEKS
MGM249 Congenital stationary night blindness gene panel 14 NGS 3 WEEKS
MGM252 Leber congenital amaurosis gene panel 19 NGS 3 WEEKS
MGM254 Microphthalmia and anophthalmia gene panel 29 NGS 3 WEEKS
MGM256 Optic atrophy gene panel 4 NGS 3 WEEKS
MGM257 Retinal degeneration gene panel 224 NGS 3 WEEKS
MGM260 Usher syndrome gene panel 12 NGS 3 WEEKS
MGM221 RB1 gene analysis – Gene screening and deletion/duplication analysis NGS & MLPA 3 WEEKS
MGM252 Leber hereditary optic neuropathy - Whole mitochondrial seq. NGS 2 WEEKS
Other syndromic diseases with ocular involvement - clinical exome NGS 4 WEEKS

GENETIC TEST SELECTION LIST:

NGS : Next-Generation Sequencing, Sanger : Sanger Sequencing, MLPA : Multiplex Ligation-dependent Probe Amplification, RT-PCR : Real-Time PCR, IHC : Immunohistochemistry

Click on the link below to know about Sample Requirement

SAMPLE REQUIREMENT

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