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Genes and Diseases eyeGENE®

The genes and diseases currently being tested by the eyeGENE® Network are given in the table below. The eyeGENE® Working Group, which includes ophthalmologists and genetic counselors, determines the genetic tests that are ordered upon the review of the clinical data submitted by the referring health care provider. At any point in the process, the referring health care provider is welcome to confer with his/her NEI professional colleagues.

Diagnoses eligible for inclusion Genes that may be tested
Achromatopsia CNGA3, CNGB3
Albinism Recessive TYR, OCA2, TYRP1, SLC45A2
X-linked GPR143 (OA1)
Aniridia and other developmental eye anomalies PAX6, WT1#, DCDC1#, ELP4# (# del/dup testing only)
Axenfeld - Rieger Syndrome FOXC1, PITX2
Best Disease BEST1
Bietti's Crystalline Corneo-Retinal Dystrophy CYP4V2
Choroideremia CHM
Chronic Progressive External Ophthalmoplegia (CPEO) POLG
Cone Rod Dystrophy ABCA4, RPGR, CRX, GUCY2D (codon R838)
Congenital Cranial Dysinnervation Diseases (CCDD) KIF21A, CHN1, SALL4, TUBB3, HOXA1, PHO2A, ROBO3, HOXB1
Congenital Stationary Night Blindness/Oguchi Disease GPR179, RHO, NYX, TRPM1, SAG
Corneal Dystrophy TGFBI, KRT3, KRT12
Doyne Honeycomb Dystrophy EFEMP1
Familial Exudative Vitreal Retinopathy FZD4, LRP5, NDP, TSPAN12
Familial/Congenital Nystagmus (familial cases only) FRMD7
Fundus Albipunctatus/Bothnia Retinal Dystrophy RDH5, RLBP1
Glaucoma (juvenile open angle and congenital only) CYP1B1, OPTN, MYOC
Hermansky-Pudlak Syndrome HPS1 and HPS3*
Juvenile X-linked Retinoschisis RS1
Kearns-Sayre Syndrome (KSS), Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS), Myoclonis Epilepsy associated with Ragged Red Fibers (MERRF), Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) Mitochondrial gene panel (from blood only - muscle biopsies are not accepted)
Leber Hereditary Optic Neuropathy (LHON) LHON panel (MT-ND4, MT-ND1, MT-ND6/mutations 11778G>A, 3460G>A, 14484T>C, and 14459G>A)
Lowe Syndrome OCRL
Microphthalmia and Anophthalmia RAX, SOX2, OTX2, VSX2, STRA6 and SIX6del/dup analysis
Neurodegeneration with Brain Iron Accumulation (NBIA) FA2H, MMIN, PANK2, PLA2G6
Occult Macular Dystrophy RP1L1 (R45W)
Optic Atrophy, Dominant OPA1, OPA3
Papillo-renal Syndrome PAX2
Pattern Dystrophy PRPH2
Retinitis Pigmentosa (RP) and Retinal Degenerations Dominant (panel** including RHO, PRPH2, RP1, IMPDH1, PRPF8, NR2E3, PRPF3, TOPORS, PRPF31, RP1, KLHL7, SNRNP200), CA4, CRB1, CTRP5
X-linked RPGR, RP2
Recessive: single genes available on limited basis - please inquire with CC
Retinoblastoma^ (12/50 enrolled for 2013) RB1
Sorsby Fundus Dystrophy TIMP3
Stargardt Disease ABCA4, ELOVL4, PRPH2
Stickler Syndrome^ (12/50 enrolled for 2013) COL2A1
Usher Syndrome^ (Limit exceeded for 2013, 10/50 pending testing in 2014) Usher panel** (CDH23, CLRN1, DFNB31 (WHRN), GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A)

Updated 5-14-2013

^ Limited to 50 tests per yr; Participants' samples will be tested in the order they are received. Please contact the eyeGENE® Coordinating Center for more details.

*In individuals of Puerto Rican decent - test screens for a 16 bp duplication in HPS1 and a 3.9 kb deletion in HPS3.
Ashkenazi Jewish individuals will be tested for IVS5 splice site mutations in HPS3 only. HPS samples from individuals outside of these categories will not be tested at this time.

**not all genes sequenced in full and not all are available outside of panel

Genetic tests ordered are determined by the eyeGENE® Working Group after review of the clinical data submitted by the referring clinician.

Sporadic/isolated and recessive retinitis pigmentosa and sporadic/isolated and recessive Cone-Rod Dystrophy

At the present time, patient samples will be collected and stored in the eyeGENE® repository and NOT CLIA-tested. Although some tests are available, careful systematic diagnostic assays are cost prohibitive to the eyeGENE® Network at this time. These stored samples will be CLIA-tested once new CLIA-approved diagnostic technology is available through the eyeGENE® Network. Potential results may become available through research screening. Individual level genetic results from research will be confirmed in a CLIA- approved diagnostic laboratory before being communicated.

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