Ophthalmology
DNA Labs India | Diagnostic Tests
Ophthalmology
Clinical Overview
Sub-category mapping under Genetics & Genomics
| Reviewed by: Dr. Rajesh Kumar, MD Pathology | ISO 9001:2015 Certified Laboratory
This content is for educational purposes only. Always consult a qualified healthcare provider for medical advice.
Tests
Leber's Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test
The purpose of this test is to detect specific mitochondrial DNA mutations that cause Leber's Heredi...
Nx Gen Sequencing: Cataract Test
The purpose of this test is to identify genetic mutations that may increase the risk of developing c...
Nx Gen Sequencing: Glaucoma Test
The purpose of Nx Gen Sequencing: Glaucoma Test is to analyze genetic mutations linked to glaucoma,...
Nx Gen Sequencing: Corneal Dystrophy Test
To identify specific genetic mutations responsible for corneal dystrophy for accurate diagnosis, tar...
Nx Gen Sequencing: Leber Congenital Amaurosis Test
The purpose of the Nx Gen Sequencing test for Leber Congenital Amaurosis is to identify specific gen...
Nx Gen Sequencing: Ophthalmoplegia Test
The purpose of Nx Gen Sequencing for Ophthalmoplegia is to identify genetic mutations in genes such...
Nx Gen Sequencing: Microphthalmia / Anophthalmia / Coloboma Spectrum Test
The purpose of this test is to determine the genetic basis of Microphthalmia, Anophthalmia, and Colo...
Nx Gen Sequencing: Optic Atrophy Test
The purpose of the Nx Gen Sequencing: Optic Atrophy Test is to identify genetic mutations or abnorma...
GPR143 Gene Albinism, Ocular Type I, Nettleship-Falls Type NGS Genetic Test
The purpose of this test is to identify mutations in the GPR143 gene that cause ocular albinism, ena...
SLC24A5 Gene Albinism, Oculocutaneous Nonsyndromic NGS Genetic Test
To identify mutations in the SLC24A5 gene associated with oculocutaneous albinism for diagnostic con...
Ophthalmology Eyes Vision Panel NGS Genetic Test
The purpose of this test is to diagnose genetic disorders affecting the eyes and vision by identifyi...
CNGA3 Gene Achromatopsia Type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the CNGA3 gene that cause achromatop...
TYR Gene Albinism, Oculocutaneous Type 1A NGS Genetic Test
The purpose of this test is to detect mutations in the TYR gene that cause oculocutaneous albinism t...
CNGB3 Gene Achromatopsia Type 3 NGS Genetic Test
To identify pathogenic mutations in the CNGB3 gene responsible for achromatopsia type 3, enabling ac...
TYR Gene Albinism, Oculocutaneous Type 1B NGS Genetic Test
To diagnose mutations in the TYR gene associated with Oculocutaneous Albinism Type 1B, confirm clini...
OCA2 Gene Albinism, Oculocutaneous Type 2 NGS Genetic Test
The purpose of the OCA2 Gene Albinism Genetic Test is to identify mutations in the OCA2 gene to diag...
ADAMTSL4 Gene Ectopia Lentis, Isolated, Autosomal Recessive NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the ADAMTSL4 ge...
PXDN Gene Corneal Opacification and Other Ocular Anomalies NGS Genetic Test
The purpose of this test is to detect genetic mutations in the PXDN gene that cause corneal opacific...
VSX1 Gene Corneal Dystrophy, Posterior Polymorphous, Type 1 NGS Genetic Test
To identify mutations in the VSX1 gene associated with posterior polymorphous corneal dystrophy type...
LOXL1 Gene Exfoliation Syndrome, Susceptibility to NGS Genetic Test
The purpose of the LOXL1 Gene Exfoliation Syndrome NGS Genetic Test is to identify specific genetic...
CHN1 Gene Duane Retraction Syndrome NGS Genetic Test
The purpose of this test is to diagnose Duane Retraction Syndrome by identifying mutations in the CH...
FZD4 Gene Exudative Vitreoretinopathy NGS Genetic Test
To detect pathogenic mutations in the FZD4 gene for early diagnosis, risk assessment, and management...
FBN1 Gene Ectopia Lentis, Familial NGS Genetic Test
To identify pathogenic mutations in the FBN1 gene that cause ectopia lentis and related connective t...
NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia NGS Genetic Test
The primary purpose of this test is to identify pathogenic or likely pathogenic mutations in the NLR...
NDP Gene Exudative Vitreoretinopathy Type 2 NGS Genetic Test
To detect mutations in the NDP gene for diagnosis of Exudative Vitreoretinopathy Type 2, aiding in e...
SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic Test
The purpose of the SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic Test is to identify...
KIF21A Gene Fibrosis of Extraocular Muscles, Congenital Type 1 NGS Genetic Test
To detect pathogenic mutations in the KIF21A gene associated with Congenital Fibrosis of Extraocular...
SALL4 Gene Duane Retraction syndrome NGS Genetic Test
To diagnose SALL4 Gene Duane Retraction Syndrome by identifying pathogenic variants in the SALL4 gen...
Retinal Degeneration Gene Panel
The purpose of the Retinal Degeneration Gene Panel is to identify genetic mutations responsible for...
SLC45A2 Gene Albinism, Oculocutaneous Type 4 NGS Genetic Test
The purpose of this test is to confirm or exclude a clinical suspicion of oculocutaneous albinism ty...
PAX6 Gene Aniridia NGS Genetic Test
The purpose of the PAX6 Gene Aniridia NGS Genetic Test is to detect pathogenic or likely pathogenic...
PITX3 Gene Anterior Segment Mesenchymal Dysgenesis NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the PITX3 gene in individuals with...
C10ORF11 Gene Albinism, Oculocutaneous Type 5 NGS Genetic Test
To detect mutations in the C10ORF11 gene using next-generation sequencing and provide a molecular di...
CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy NGS Genetic Test
The purpose of this CYP4V2 NGS genetic test is to detect pathogenic variants in the CYP4V2 gene that...
BEST1 Gene Bestrophinopathy NGS Genetic Test
The BEST1 Gene Bestrophinopathy NGS Genetic Test is a high-throughput sequencing assay designed to d...
FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the FOXL2 gene in individuals wi...
RLBP1 Gene Bothnia Retinal Dystrophy NGS Genetic Test
This test is used to detect disease-causing mutations in the RLBP1 gene, confirm a diagnosis of Both...
RGS9 Gene Bradyopsia NGS Genetic Test
The purpose of the RGS9 Gene Bradyopsia NGS Genetic Test is to identify pathogenic mutations in the...
RGS9BP Gene Bradyopsia NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the RG...
PITX3 Gene Cataract 11, Multiple Types NGS Genetic Test
The purpose of the PITX3 Gene Cataract 11 NGS Genetic Test is to identify pathological mutations in...
CRYBB3 Gene Cataract, Autosomal Recessive Congenital Nuclear Type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the CRYBB3 gene responsible for autosomal recessi...
ZNF469 Gene Brittle Cornea Syndrome NGS Genetic Test
The primary purpose of this test is to identify disease-causing sequence variants in the ZNF469 gene...
CRYBA4 Gene Cataract Type 23 NGS Genetic Test
The primary purpose is to identify pathogenic variants in the CRYBA4 gene associated with Cataract T...
UNC45B Gene Cataract Type 43 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the UNC45B gene associated...
FYCO1 Gene Cataract, Autosomal Recessive Congenital Type 2 NGS Genetic Test
The purpose of this test is to confirm the diagnosis of autosomal recessive congenital cataract type...
GCNT2 Gene Cataract, Autosomal Dominant NGS Genetic Test
The purpose of this test is to identify clinically significant pathogenic variants in the GCNT2 gene...
CRYBB1 Gene Cataract Type 17, Multiple Types NGS Genetic Test
To identify pathogenic variants in the CRYBB1 gene that are associated with cataract type 17. This h...
TDRD7 Gene Cataract, Autosomal Recessive Congenital Type 4 NGS Genetic Test
The purpose of this NGS test is to detect pathogenic disease-causing variants in the TDRD7 gene, con...
AGK Gene Cataract, Autosomal Recessive Type 38 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the AGK gene that cause autosomal reces...
HSF4 Gene Cataract, Lamellar NGS Genetic Test
Confirm HSF4 gene mutations and support presymptomatic risk assessment in hereditary lamellar catara...
LIM2 Gene Cataract, Cortical Pulverulent, Late-Onset NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the LIM2 gene and confirm t...
SORD Gene Cataract, Congenital NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the SORD gene in...
SIL1 Gene Cataract, Congenital, Associated with Marinesco-Sjogren Syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing sequence variants in the SIL1 gene...
GJA8 Gene Cataract-Microcornea Syndrome NGS Genetic Test
The purpose of this test is to identify clinically significant pathogenic variants in the GJA8 gene...
MAF Gene Cataract, Pulverulent or Cerulean, with or without Microcornea NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MAF gene associated with pulverul...
CRYAA Gene Cataract, Autosomal Recessive Congenital Type 1 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the CRYAA gene that are associated wi...
PAX6 Gene Coloboma of Optic Nerve NGS Genetic Test
To detect pathogenic variants in the PAX6 gene in individuals with optic nerve coloboma or related o...
PAX6 Gene Coloboma, Ocular, Autosomal Dominant NGS Genetic Test
The primary purpose of this NGS genetic test is to identify germline mutations in the PAX6 gene that...
CTC1 Gene Coat Plus Syndrome NGS Genetic Test
This test is intended to detect mutations in the CTC1 gene and other genes associated with Coat plus...
RAX2 Gene Cone-Rod Dystrophy Type 11 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the RAX2 gene as...
AIPL1 Gene Cone-Rod Dystrophy NGS Genetic Test
The primary purpose of the AIPL1 Gene Cone-Rod Dystrophy NGS Genetic Test is to identify pathogenic...
TENM1 Gene Colobomatous Microphthalmia NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the TENM1 gene associated with coloboma...
YAP1 Gene Coloboma, Ocular, with or without Hearing Impairment, Cleft Lip/Palate, and/or Mental Retardation NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the YAP1 gene in individual...
UNC119 Gene Cone-Rod Dystrophy NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the UNC119 gene and confirm a mo...
CD3G Gene Cone-Rod Dystrophy Type 17 NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the CD3G gene that cause Cone-Rod D...
RPGRIP1 Gene Cone-Rod Dystrophy Type 13 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the RPGRIP1 gene that are...
PROM1 Gene Cone-Rod Dystrophy Type 12 NGS Genetic Test
The purpose of this test is to identify a pathogenic or likely pathogenic variant in the PROM1 gene...
GUCA1A Gene Cone-Rod Dystrophy Type 14 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the GUCA1A gene that cause Cone-Rod Dys...
CDHR1 Gene Cone-Rod Dystrophy Type 15 NGS Genetic Test
To detect mutations in the CDHR1 gene associated with Cone-Rod Dystrophy Type 15, confirm a clinical...
CRX Gene Cone-Rod Dystrophy Type 2 NGS Genetic Test
The test is intended to identify a molecular genetic cause of cone-rod dystrophy in individuals whos...
POC1B Gene Cone-Rod Dystrophy Type 20 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the POC1B gene using NGS technology t...
ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic Test
To confirm a suspected diagnosis of cone-rod dystrophy type 9 by identifying pathogenic variants in...
PITPNM3 Gene Cone-Rod Dystrophy Type 5 NGS Genetic Test
To detect pathogenic or likely pathogenic variants in the PITPNM3 gene associated with cone-rod dyst...
PDE6C Gene Cone-Rod Dystrophy Type 4 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the PDE6C gene using next-genera...
C21ORF2 Gene Cone-Rod Dystrophy, C21ORF2 Related NGS Genetic Test
To detect pathogenic variants in the C21ORF2 gene associated with cone-rod dystrophy, confirming the...
RIMS1 Gene Cone-Rod Dystrophy Type 7 NGS Genetic Test
The purpose of this test is to identify genetic variants in the RIMS1 gene in individuals with suspe...
TUBB3 Gene Fibrosis of Extraocular Muscles, Congenital Type 3a NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the TUBB3 gene that are associated with...
ABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic Test
To confirm the clinical diagnosis of cone-rod dystrophy type 3 by identifying pathogenic variants in...
PAX6 Gene Foveal Hypoplasia Type 1 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the PAX6 gene that are as...
PLA2G5 Gene Fleck Retina, Familial Benign NGS Genetic Test
The primary purpose of this test is to confirm a clinical suspicion of familial benign fleck retina...
OPTN Gene Glaucoma, Open Angle Type 1E NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the OPTN gene that cause op...
MYOC Gene Glaucoma, Open Angle Type 1A NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing mutations in the MYOC gene associa...
PRPH2 Gene Fundus Albipunctatus NGS Genetic Test
The purpose of this NGS genetic test is to detect clinically significant variants in the PRPH2 gene...
ASB10 Gene Glaucoma, Open Angle Type 1F NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the ASB10 gene...
WDR36 Gene Glaucoma, Open Angle Type 1G NGS Genetic Test
The purpose of this NGS genetic test is to detect sequence variants in the WDR36 gene that are assoc...
NTF4 Gene Glaucoma, Open Angle Type 1F NGS Genetic Test
The test is performed to identify mutations in the NTF4 gene associated with open-angle glaucoma typ...
CYP1B1 Gene Glaucoma, Primary Type 3A NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the CYP1B1 gene that may ca...
LTBP2 Gene Glaucoma, Primary Type 3D NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the LTBP2 gene using NGS technol...
OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia NGS Genetic Test
The purpose of this test is to confirm the diagnosis of gyrate atrophy of choroid and retina in indi...
RB1 Gene Hereditary Retinoblastoma NGS Genetic Test
The purpose of the RB1 gene hereditary retinoblastoma NGS genetic test is to identify pathogenic var...
OCA2 Gene Albinism, oculocutaneous type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the OCA2 gene t...
CDH3 Gene Ectodermal dysplasia, ectrodactyly, and macular dystrophy NGS Genetic Test
To confirm mutations in the CDH3 gene for diagnosis of ectodermal dysplasia, ectrodactyly, and macul...
PHOX2A Gene Fibrosis of extraocular muscles, congenital type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the PHOX2A gene to confirm a diagnosis of conge...
PITX3 Gene Anterior segment mesenchymal dysgenesis NGS Genetic Test
The purpose of this test is to diagnose Anterior Segment Mesenchymal Dysgenesis (ASMD) by detecting...
PITX2 Gene Axenfeld-Rieger syndrome type 1 NGS Genetic Test
To diagnose Axenfeld-Rieger Syndrome Type 1 by detecting mutations in the PITX2 gene using NGS techn...
CHM Gene Choroideremia NGS Genetic Test
The purpose of the CHM Gene Choroideremia NGS Genetic Test is to identify mutations in the CHM gene...
Comprehensive Ophthalmic Genetic Disorder Panel
The purpose of this test is to identify the underlying genetic cause of ophthalmic disorders. This c...