Офтальмик в linked in Офтальмик в твиттере Офтальмик вконтакте Статистика сайта Офтальмик.ру
Генетическая диагностика глазных болезней
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Диагностируем:
· Катаракта
· Глаукома
· Макулярная дегенерация
· Близорукость
· Пигментный ретинит
· Дистрофии сетчатки
· Дистрофии роговицы
· Увеиты
· Ретинобластома
· Амавроз Лебера
· Микрофтальм
· Анофтальм
· Аксенфельда-Ригера
· Ваарденбурга синдром
· Ретиношизис
· Косоглазие
· Выезд окулиста на дом
· Синдром Ашера
· Редкие болезни
 
 
Обучение
· Конференции
· Книги по офтальмогенетике
· Книга О.В. Хлебниковой Наследственная патология органа зрения
· Методы исследования в офтальмологии
· Классификация наследственных болезней сетчатки
· Критерии клинической классификации
· Форум по молекулярной медицине 2013
· Анализ геномных NGS данных
 
 
Пороки развития
· размеров и формы глаза
· придаточного аппарата
· роговицы
· сосудистой оболочки глаза
· хрусталика
· сетчатки
· зрительного нерва
· МУТАНТНЫЕ БЕЛКИ
 
 
Типы диагностики
· CLIA - что это?
· Кариотипирование
· FISH анализ
· SKY тест
· SSDGE или SSCP
· DGGE
· RFLPs
· Специфичный микрочип
· Типичный микрочип
· Прямое секвенирование
 
 
Панели тестов
· Панель "цилиопатии"
· Панель "пигментный ретинит"
· Панель "все глазные заболевания"
· Животные модели
· Пигментный ретинит: новости 2013
· Метаболизм сетчатки
· Дегенерация сетчатки и клеточная биология
 
 

ДНК диагностика в компании Офтальмик

Наиболее популярные тесты:

Общество людей с синдромом Ашера Общество людей с дистрофией сетчатки общество людей с возрастной макулярной дегенерацией
Микрофтальм/ анофтальм Ашера (Usher) синдром Центральные и периферические дистрофии сетчатки Возрастная макулярная дегенерация
Общество людей с глаукомой Общество людей с дистрофией роговицы Общество людей с близорукостью Общество людей с амаврозом Лебера
Глаукома Дистрофии роговицы Близорукость Лебера амавроз
Общество людей с альбинизмом Общество людей с увеитом
Ретинобластома Нейропатия Лебера Альбинизм Увеит

Предлагаемые услуги:

Тесты на базе лаборатории Centogene

  • Albinism panel (NGS Panel; GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1)
  • Cataract panel (NGS Panel; AGK,CRYAA,CRYAB,CRYBB1,CRYBB3,CTDP1,FYCO1,GCNT2,GJA8,HSF4,LIM2,SIL1,TDRD7)
  • Cone-rod and cone dystrophy panel (NGS Panel; ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119)
  • Flecked retina panel (NGS Panel; CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, VPS13B)
  • Hermansky-Pudlak syndrome panel (NGS Panel; HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3)
  • Leber congenital amaurosis panel (NGS Panel; AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1)
  • Leber optic atrophy panel (NGS Panel; MT-ATP6, MT-CO1, MT-CO3, MT-CYB , MT -ND1, MT-ND2, MT-ND4, MT-ND4L, MT-ND5, MT-ND6)
  • Microphthalmia panel (NGS Panel; ALDH1A3, BCOR, BMP4, HCCS, MITF, OTX2, RAX, SIX6, SOX2, STRA6, TENM1, TENM3, VSX2)
  • Oculomotor apraxia panel (NGS Panel; APTX, PIK3R5, SETX)
  • Ophthalmoplegia (progressive external) panel (NGS Panel; C10ORF2, OPA1, POLG1, POLG2, RRM2B, SLC25A4, TYMP)
  • Optic atrophy panel (NGS Panel; AUH, C12ORF65, CISD2, NDUFS1, OPA1, OPA3, POLG, SPG7, TIMM8A, TMEM126A, WFS1)
  • Retinitis pigmentosa panel, autosomal dominant (NGS Panel; ABCA4, BEST1, CA4, CRX, CLRN1, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS)
  • Retinitis pigmentosa panel, autosomal recessive (NGS Panel; ABCA4, ARL6, BBS1, BEST1, C2ORF71, C8ORF37, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, GNPTG, IDH3B, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RBP3, RDH12, RGR, RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, SEMA4A, SPATA7, TTC8, TULP1, USH2A, ZNF513)
  • Stargardt disease panel (NGS Panel; ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, PRPH2, RDH12, RP1L1, RPGR, TIMP3)
  • Stickler syndrome panel (NGS Panel; COL2A1, COL9A1, COL9A2, COL11A1, COL11A2)
  • Vitreoretinopathy and Wagner syndrome panel (NGS Panel; COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN)
  • Mitochondrial panel >>
  • Achromatopsia type 2 (CNGA3)
  • Achromatopsia type 3 (CNGB3)
  • Achromatopsia type 4 (GNAT2)
  • Achromatopsia type 6 (PDE6H)
  • Aland Island eye disease (CACNA1F)
  • Albinism, ocular type I, Nettleship-Falls type (GPR143)
  • Albinism, oculocutaneous nonsyndromic (SLC24A5)
  • Albinism, oculocutaneous type 1A (TYR)
  • Albinism, oculocutaneous type 1B (TYR)
  • Albinism, oculocutaneous type 3 (TYRP1)
  • Albinism, oculocutaneous type 4 (SLC45A2)
  • Albinism, oculocutaneous type 5 (C10ORF11)
  • Alstrom syndrome (ALMS1)
  • Aniridia (PAX6)
  • Bestrophinopathy (BEST1)
  • Blepharophimosis, epicanthus inversus, and ptosis (FOXL2)
  • Blepharophimosis-ptosis-intellectual disability syndrome (UBE3B)
  • Bothnia retinal dystrophy (RLBP1)
  • Bradyopsia (RGS9)
  • Bradyopsia (RGS9BP)
  • Branchiootorenal syndrome type 1 (EYA1)
  • Brittle cornea syndrome (ZNF469)
  • Cataract, autosomal dominant nuclear, included (GCNT2)
  • Cataract, autosomal recessive congenital nuclear type 2 (CRYBB3)
  • Cataract, autosomal recessive congenital nuclear type 3 (CRYBB1)
  • Cataract, autosomal recessive congenital type 1 (CRYAA)
  • Cataract, autosomal recessive congenital type 2 (FYCO1)
  • Cataract, autosomal recessive congenital type 4 (TDRD7)
  • Cataract, autosomal recessive type 38 (AGK)
  • Cataract, congenital, associated with Marinesco-Sjogren Syndrome (SIL1)
  • Cataract, cortical pulverulent, late-onset (LIM2)
  • Cataract, lamellar (HSF4)
  • Cataract, posterior polar type 2 (CRYAB)
  • Cataract, type 23 (CRYBA4)
  • Cataract-microcornea syndrome (GJA8)
  • Choroidal dystrophy, central areolar type 2 (PRPH2)
  • Choroideremia (CHM)
  • Coat plus syndrome (CTC1)
  • Colobomatous microphthalmia (TENM1)
  • Cone-rod dystrophy (UNC119)
  • Cone-rod dystrophy (AIPL1)
  • Cone-rod dystrophy type 11 (RAX2)
  • Cone-rod dystrophy type 12 (PROM1)
  • Cone-rod dystrophy type 13 (RPGRIP1)
  • Cone-rod dystrophy type 14 (GUCA1A)
  • Cone-rod dystrophy type 15 (CDHR1)
  • Cone-rod dystrophy type 2 (CRX)
  • Cone-rod dystrophy type 3 (ABCA4)
  • Cone-rod dystrophy type 4 (PDE6C)
  • Cone-rod dystrophy type 5 (PITPNM3)
  • Cone-rod dystrophy type 7 (RIMS1)
  • Cone-rod dystrophy type 9 (ADAM9)
  • Cone-rod dystrophy, X-linked type 3 (CACNA1F)
  • Corneal dystrophy, epithelial basement membrane (TGFB1)
  • Corneal endothelial dystrophy 2 (SLC4A11)
  • Doyne honeycob retinal dystrophy (EFEMP1)
  • Duane Retraction syndrome (CHN1)
  • Duane Retraction syndrome (SALL4)
  • Dyschromatosis symmetrica hereditaria (ADAR)
  • Exudative vitreoretinopathy (FZD4)
  • Exudative vitreoretinopathy type 2 (NDP)
  • Exudative vitreoretinopathy type 5 (TSPAN12)
  • Fibrosis of extraocular muscles, congenital type 1 (KIF21A)
  • Fibrosis of extraocular muscles, congenital type 3a (TUBB3)
  • Fleck retina, familial benign (PLA2G5)
  • Fundus albipunctatus (RDH5)
  • Fundus albipunctatus (PRPH2)
  • Fundus flavimaculatus (ABCA4)
  • Fundus flavimaculatus (PRPH2)
  • Glaucoma, open angle type 1A (MYOC)
  • Glaucoma, open angle type 1E (OPTN)
  • Glaucoma, open angle type 1G (WDR36)
  • Glaucoma, primary type 3A (CYP1B1)
  • Glaucoma, primary type 3D (LTBP2)
  • Gyrate atrophy of choroid and retina with or without ornithinemia (OAT)
  • Hermansky Pudlak syndrome type 4 (HPS4)
  • Hermansky-Pudlak syndrome type 1 (HPS1)
  • Hermansky-Pudlak syndrome type 2 (AP3B1)
  • Hermansky-Pudlak syndrome type 3 (HPS3)
  • Hermansky-Pudlak syndrome type 5 (HPS5)
  • Hermansky-Pudlak syndrome type 6 (HPS6)
  • Hermansky-Pudlak syndrome type 7 (DTNBP1)
  • Hermansky-Pudlak syndrome type 8 (BLOC1S3)
  • Hyperferritinemia-cataract syndrome (FTL)
  • Iridogoniodysgenesis, type 1 (FOXC1)
  • Jalili syndrome (CNNM4)
  • Knobloch syndrome type 1 (COL18A1)
  • Leber congenital amaurosis type 1 (GUCY2D)
  • Leber congenital amaurosis type 11 (IMPDH1)
  • Leber congenital amaurosis type 12 (RD3)
  • Leber congenital amaurosis type 16 (KCNJ13)
  • Leber congenital amaurosis type 3 (SPATA7)
  • Leber congenital amaurosis type 5 (LCA5)
  • Leber congenital amaurosis type 6 (RPGRIP1)
  • Leber congenital amaurosis type 7 (CRX)
  • Leber congenital amaurosis type 9 (NMNAT1)
  • Leber congenital amaurosis with myopathy (DTHD1)
  • Leber congenital neuropathy (MT-CYB)
  • Leber optic atrophy (MT-CO1)
  • Leber optic atrophy (MT-CO3)
  • Leber optic atrophy (MT-ND1)
  • Leber optic atrophy (MT-ND2)
  • Leber optic atrophy (MT-ND4)
  • Leber optic atrophy (MT-ND4L)
  • Leber optic atrophy (MT-ND5)
  • Leber optic atrophy (MT-ND6)
  • Leber optic atrophy (MT-ATP6)
  • Macular degeneration, age-related type 11 (CST3)
  • Macular degeneration, age-related type 6 (RAX2)
  • Macular dystrophy retinal type 2 (PROM1)
  • Macular dystrophy, vitelliform (BEST1)
  • Macular dystrophy, vitelliform (PRPH2)
  • Mainzer Saldino syndrome (IFT140)
  • Megalocornea, X-linked (CHRDL1)
  • Microphthalmia syndromic type 2 (BCOR)
  • Microphthalmia syndromic type 3 (SOX2)
  • Microphthalmia syndromic type 4 (OTX2)
  • Microphthalmia syndromic type 6 (BMP4)
  • Microphthalmia syndromic type 6 (SIX6)
  • Microphthalmia syndromic type 7 (HCCS)
  • Microphthalmia syndromic type 8 (ALDH1A3)
  • Microphthalmia syndromic type 9 (STRA6)
  • Microphthalmia, isolated type 2 (VSX2)
  • Microphthalmia, isolated type 3 (RAX)
  • Microphthalmia, isolated type 9 (GDF3)
  • Microphthalmia, isolated with coloboma type 3 (VSX2)
  • Microphthalmia, isolated with coloboma type 6 (GDF3)
  • Microspherophakia and/or megalocornea (LTBP2)
  • Night blindness, congenital stationar type 1B (GRM6)
  • Night blindness, congenital stationary type 1A (NYX)
  • Night blindness, congenital stationary type 2A (CACNA1F)
  • Night blindness, congenital stationary type 2B (CABP4)
  • Night blindness, congenital stationary type 3 (GNAT1)
  • Night blindness, congenital stationary, autosomal dominant type 2 (PDE6B)
  • Night blindness, congenital stationary, type 1E (GPR179)
  • Nonarteritic anterior ischemic optic neuropathy (GP1BA)
  • Nystagmus type 1 (FRMD7)
  • Nystagmus type 6 (GPR143)
  • Occult macular dystrophy (RP1L1)
  • Oguchi disease (SAG)
  • Oguchi disease (GRK1)
  • Optic atrophy (TMEM126A)
  • Optic atrophy type 3 (OPA3)
  • Optic atrophy type1 (OPA1)
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (OPA1)
  • Patterned dystrophy of retinal pigment epithelium (PRPH2)
  • Peters Anomaly (CYP1B1)
  • Peters-Plus syndrome (B3GALTL)
  • Progressive external ophthalmoplegia with mitochondrial deletions type 1 (POLG)
  • Progressive external ophthalmoplegia with mitochondrial deletions type 3 (C10ORF2)
  • Progressive external ophthalmoplegia with mitochondrial deletions type 4 (POLG2)
  • Progressive external ophthalmoplegia with mitochondrial deletions, autosomal recessive (POLG)
  • Retinal cone dystrophy type 3B (KCNV2)
  • Retinal cone dystrophy type 4 (CACNA2D4)
  • Retinal degeneration, late-onset, autosomal dominant (C1QTNF5)
  • Retinal dystrophy, early-onset severe (ABCA4)
  • Retinal nonattachment nonsyndromic congenital (ATOH7)
  • Retinitis pigmentosa juvenile (LRAT)
  • Retinitis pigmentosa type 1, autosomal dominant (RP1)
  • Retinitis pigmentosa type 10, autosomal dominant (IMPDH1)
  • Retinitis pigmentosa type 11, autosomal dominant (PRPF31)
  • Retinitis pigmentosa type 12, autosomal recessive (CRB1)
  • Retinitis pigmentosa type 13, autosomal dominant (PRPF8)
  • Retinitis pigmentosa type 14, autosomal recessive (TULP1)
  • Retinitis pigmentosa type 17, autosomal dominant (CA4)
  • Retinitis pigmentosa type 18, autosomal dominant (PRPF3)
  • Retinitis pigmentosa type 19, autosomal dominant (ABCA4)
  • Retinitis pigmentosa type 19, autosomal recessive (ABCA4)
  • Retinitis pigmentosa type 2 X-linked (RP2)
  • Retinitis pigmentosa type 20, autosomal recessive (RPE65)
  • Retinitis pigmentosa type 23 X-linked (OFD1)
  • Retinitis pigmentosa type 25, autosomal recessive (EYS)
  • Retinitis pigmentosa type 26, autosomal recessive (CERKL)
  • Retinitis pigmentosa type 27, autosomal dominant (NRL)
  • Retinitis pigmentosa type 28, autosomal recessive (FAM161A)
  • Retinitis pigmentosa type 3 X-linked (RPGR)
  • Retinitis pigmentosa type 30, autosomal dominant (FSCN2)
  • Retinitis pigmentosa type 31, autosomal dominant (TOPORS)
  • Retinitis pigmentosa type 33, autosomal dominant (SNRNP200)
  • Retinitis pigmentosa type 35, autosomal dominant/recessive (SEMA4A)
  • Retinitis pigmentosa type 36, autosomal recessive (PRCD)
  • Retinitis pigmentosa type 37, autosomal dominant/recessive (NR2E3)
  • Retinitis pigmentosa type 38, autosomal recessive (MERTK)
  • Retinitis pigmentosa type 39, autosomal recessive (USH2A)
  • Retinitis pigmentosa type 4, autosomal dominant/recessive ( RHO )
  • Retinitis pigmentosa type 40, autosomal recessive (PDE6B)
  • Retinitis pigmentosa type 41, autosomal recessive (PROM1)
  • Retinitis pigmentosa type 42, autosomal dominant (KLHL7)
  • Retinitis pigmentosa type 43, autosomal recessive (PDE6A)
  • Retinitis pigmentosa type 44, autosomal dominant/recessive (RGR)
  • Retinitis pigmentosa type 45, autosomal recessive (CNGB1)
  • Retinitis pigmentosa type 46, autosomal recessive (IDH3B)
  • Retinitis pigmentosa type 47, autosomal recessive (SAG)
  • Retinitis pigmentosa type 48, autosomal dominant (GUCA1B)
  • Retinitis pigmentosa type 49, autosomal recessive (CNGA1)
  • Retinitis pigmentosa type 50, autosomal dominant (BEST1)
  • Retinitis pigmentosa type 51, autosomal recessive (TTC8)
  • Retinitis pigmentosa type 53, autosomal recessive (RDH12)
  • Retinitis pigmentosa type 54, autosomal recessive (C2ORF71)
  • Retinitis pigmentosa type 55, autosomal recessive (ARL6)
  • Retinitis pigmentosa type 56, autosomal recessive (IMPG2)
  • Retinitis pigmentosa type 57, autosomal recessive (PDE6G)
  • Retinitis pigmentosa type 58, autosomal recessive (ZNF513)
  • Retinitis pigmentosa type 59, autosomal recessive (DHDDS)
  • Retinitis pigmentosa type 60 (PRPF6)
  • Retinitis pigmentosa type 61, autosomal recessive (CLRN1)
  • Retinitis pigmentosa type 62, autosomal recessive (MAK)
  • Retinitis pigmentosa type 64, autosomal recessive (C8ORF37)
  • Retinitis pigmentosa type 66, autosomal recessive (RBP3)
  • Retinitis pigmentosa type 7 (ROM1)
  • Retinitis pigmentosa type 7, autosomal dominant (PRPH2)
  • Retinitis pigmentosa type 9, autosomal dominant (RP9)
  • Retinitis pigmentosa, juvenile, autosomal recessive (SPATA7)
  • Retinoblastoma (RB1)
  • Retinoschisis (RS1)
  • Revesz syndrome (TINF2)
  • Rieger syndrome (FOXC1)
  • Rieger syndrome (PITX2)
  • Rieger syndrome (CYP1B1)
  • Rieger syndrome (PAX6)
  • Senior-Loken syndrome type 5 (IQCB1)
  • Sorsby fundus dystrophy (TIMP3)
  • Stargardt Disease type 1 (ABCA4)
  • Stargardt Disease type 1 (CNGB3)
  • Stargardt Disease type 3 (ELOVL4)
  • Stargardt Disease type 4 (PROM1)
  • Stickler syndrome type 1 (COL2A1)
  • Stickler syndrome type 2 (COL11A1)
  • Stickler syndrome type 3 (COL11A2)
  • Stickler syndrome, autosomal recessive (COL9A1)
  • Stickler syndrome, type 5 (COL9A2)
  • Usher syndrome type 1D/F (PCDH15)
  • Usher syndrome type 1D/F (CDH23)
  • Usher syndrome type 3A (CLRN1)
  • Usher syndrome type IJ (CIB2)
  • Vitreoretinochoroidopathy (BEST1)
  • Waardenburg syndrome/albinism (TYR)
  • Waardenburg syndrome/albinism (MITF)
  • Wagner syndrome (VCAN)
  • Warburg micro syndrome 3 (RAB18)
  • Warburg micro syndrome type 1 (RAB3GAP1)
  • Weill-Marchesani syndrome - AD (FBN1)
  • Weill-Marchesani syndrome - AR (ADAMTS10)
  • Wolfram syndrome type 1 (WFS1)
  • Wolfram syndrome type 1 (CISD2)

Тесты на базе лаборатории Emory

Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing and Deletion/Duplication Panel
ABCA4 , ADAM9 , AIPL1 , BEST1 , C8orf37 , CABP4 , CACNA1F , CACNA2D4 , CDHR1 , CEP290 , CERKL , CNGA3 , CNGB3 , CNNM4 , CRX , GNAT2 , GUCA1A , GUCA1B , GUCY2D , KCNV2 , PAX6 , PDE6C , PDE6H , PITPNM3 , PROM1 , PRPH2 , RAX2 , RBP4 , RDH5 , RGS9 , RGS9BP , RIMS1 , RPGR , RPGRIP1 , SEMA4A , UNC119

Albinism: Sequencing and Deletion/Duplication Panel
GPR143 , OCA2 , SLC45A2 , TYR , TYRP1

Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel
B3GALTL , BCOR , BMP4 , COL4A1 , CYP1B1 , FOXC1 , FOXE3 , FRAS1 , FREM1 , FREM2 , GRIP1 , HCCS , MFRP , OTX2 , PAX6 , PITX2 , PITX3 , SMOC1 , SOX2 , STRA6 , VAX1 , VSX2

Bardet-Biedl Syndrome: Sequencing and Deletion/Duplication Panel
ALMS1 , ARL6 , BBS1 , BBS10 , BBS12 , BBS2 , BBS4 , BBS5 , BBS7 , BBS9 , CEP290 , LZTFL1 , MKKS , MKS1 , SDCCAG8 , TRIM32 , TTC8 , WDPCP

Congenital Stationary Night Blindness: Sequencing and Deletion/Duplication Panel
CABP4 , CACNA1F , CACNA2D4 , GNAT1 , GPR179 , GRM6 , LRIT3 , NYX , PDE6B , RBP4 , RDH5 , RHO , SAG , SLC24A1 , TRPM1

Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panel
ABCA4 , ABHD12 , ADAM9 , AHI1 , AIPL1 , ALMS1 , ARL13B , ARL6 , ATP13A2 , B3GALTL , BBS1 , BBS10 , BBS12 , BBS2 , BBS4 , BBS5 , BBS7 , BBS9 , BCOR , BEST1 , BMP4 , C1QTNF5 , C2orf71 , C5orf42 , C8orf37 , CA4 , CABP4 , CACNA1F , CACNA2D4 , CC2D2A , CDH23 , CDH3 , CDHR1 , CEP290 , CEP41 , CERKL , CHM , CIB2 , CLN3 , CLN5 , CLN6 , CLN8 , CLRN1 , CNGA1 , CNGA3 , CNGB1 , CNGB3 , CNNM4 , COL11A1 , COL11A2 , COL2A1 , COL4A1 , COL9A1 , COL9A2 , CRB1 , CRX , CTSD , CYP1B1 , DFNB31 , DHDDS , EFEMP1 , ELOVL4 , EYS , FAM161A , FLVCR1 , FOXC1 , FOXE3 , FRAS1 , FREM1 , FREM2 , FSCN2 , FZD4 , GNAT1 , GNAT2 , GPR143 , GPR179 , GPR98 , GRIP1 , GRM6 , GRN , GUCA1A , GUCA1B , GUCY2D , HARS , HCCS , IDH3B , IMPDH1 , IMPG2 , INVS , IQCB1 , KCNJ13 , KCNV2 , KCTD7 , KIF7 , KLHL7 , LCA5 , LRAT , LRIT3 , LRP5 , LZTFL1 , MAK , MERTK , MFN2 , MFRP , MFSD8 , MKKS , MKS1 , MYO7A , MYOC , NDP , NPHP1 , NPHP3 , NPHP4 , NR2E3 , NRL , NYX , OCA2 , OFD1 , OPA1 , OPA3 , OTX2 , PAX6 , PCDH15 , PDE6A , PDE6B , PDE6C , PDE6G , PDE6H , PDZD7 , PEX7 , PHYH , PITPNM3 , PITX2 , PITX3 , PLA2G5 , PPT1 , PRCD , PROM1 , PRPF3 , PRPF31 , PRPF6 , PRPF8 , PRPH2 , RAX2 , RBP3 , RBP4 , RD3 , RDH12 , RDH5 , RGR , RGS9 , RGS9BP , RHO , RIMS1 , RLBP1 , ROM1 , RP1 , RP2 , RP9 , RPE65 , RPGR , RPGRIP1 , RPGRIP1L , RS1 , SAG , SDCCAG8 , SEMA4A , SLC24A1 , SLC45A2 , SMOC1 , SNRNP200 , SOX2 , SPATA7 , STRA6 , TCTN1 , TCTN2 , TCTN3 , TIMM8A , TIMP3 , TMEM126A , TMEM216 , TMEM237 , TMEM67 , TOPORS , TPP1 , TRIM32 , TRPM1 , TSPAN12 , TTC21B , TTC8 , TULP1 , TYR , TYRP1 , UNC119 , USH1C , USH1G , USH2A , VAX1 , VCAN , VSX2 , WDPCP , WT1 , ZNF423 , ZNF513 Подробнее >>

Flecked-retina Disorders: Sequencing and Deletion/Duplication Panel
ABCA4 , PLA2G5 , PRPH2 , RDH5 , RHO , RLBP1

Joubert Syndrome: Sequencing Panel
AHI1 , ARL13B , C5orf42 , CC2D2A , CEP290 , CEP41 , KIF7 , NPHP1 , OFD1 , RPGRIP1L , TCTN1 , TCTN2 , TCTN3 , TMEM216 , TMEM237 , TMEM67 , TTC21B , ZNF423

Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel
AIPL1 , CABP4 , CEP290 , CRB1 , CRX , GUCY2D , IMPDH1 , IQCB1 , KCNJ13 , LCA5 , LRAT , OTX2 , RD3 , RDH12 , RPE65 , RPGRIP1 , SPATA7 , TULP1

Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel
ABCA4 , BEST1 , CDH3 , CNGB3 , EFEMP1 , ELOVL4 , FSCN2 , GUCA1B , PROM1 , PRPH2 , RBP4 , RDH12 , RPGR , RPGRIP1 , TIMP3

Neuronal Ceroid-Lipofuscinoses: Sequencing Panel
ATP13A2 , CLN3 , CLN5 , CLN6 , CLN8 , CTSD , GRN , KCTD7 , MFSD8 , PPT1 , TPP1

Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel
ABCA4 , AIPL1 , BBS1 , BEST1 , C1QTNF5 , C2orf71 , C8orf37 , CA4 , CERKL , CLN3 , CLRN1 , CNGA1 , CNGB1 , CRB1 , CRX , DHDDS , EYS , FAM161A , FLVCR1 , FSCN2 , GUCA1B , GUCY2D , IDH3B , IMPDH1 , IMPG2 , KLHL7 , LRAT , MAK , MERTK , NR2E3 , NRL , OFD1 , PDE6A , PDE6B , PDE6G , PRCD , PROM1 , PRPF3 , PRPF31 , PRPF6 , PRPF8 , PRPH2 , RBP3 , RBP4 , RDH12 , RGR , RHO , RLBP1 , ROM1 , RP1 , RP2 , RP9 , RPE65 , RPGR , RPGRIP1 , SAG , SEMA4A , SNRNP200 , SPATA7 , TOPORS , TTC8 , TULP1 , USH2A , ZNF513

Senior-Loken Syndrome: Sequencing and Deletion/Duplication Panel
CEP290 , INVS , IQCB1 , NPHP1 , NPHP3 , NPHP4 , SDCCAG8

Stickler Syndrome: Sequencing Panel
COL11A1 , COL11A2 , COL2A1 , COL9A1 , COL9A2

Usher Syndrome: Sequencing Panel
ABHD12 , CDH23 , CIB2 , CLRN1 , DFNB31 , GPR98 , HARS , MYO7A , PCDH15 , PDZD7 , USH1C , USH1G , USH2A

Vitreoretinopathy: Sequencing and Deletion/Duplication Panel
COL11A1 , COL2A1 , COL9A1 , FZD4 , KCNJ13 , LRP5 , NDP , TSPAN12 , VCAN

 

  • BEST1-related Disorders: BEST1 Gene Sequencing
  • BEST1-related Disorders: BEST1 Gene Deletion/Duplication
  • PAX6-related Disorders: PAX6 Gene Deletion/Duplication
  • PAX6-related Disorders: PAX6 Gene Sequencing
  • RP2-related X-linked Retinitis Pigmentosa: RP2 Gene Deletion/Duplication
  • RP2-related X-linked Retinitis Pigmentosa: RP2 Gene Sequencing
  • RPGR-related X-linked Retinitis Pigmentosa: RPGR Gene Deletion/Duplication
  • RPGR-related X-linked Retinitis Pigmentosa: RPGR Gene Sequencing
  • Autosomal Dominant Optic Atrophy (Kjer Type): OPA1 Gene Deletion/Duplication
  • Autosomal Dominant Optic Atrophy (Kjer Type): OPA1 Gene Sequencing
  • Autosomal Dominant Optic Atrophy: OPA3 Gene Deletion/Duplication
  • Autosomal Dominant Optic Atrophy: OPA3 Gene Sequencing
  • Choroideremia: CHM Gene Deletion/Duplication
  • Choroideremia: CHM Gene Sequencing
  • Hermansky-Pudlak Syndrome: HPS1 Gene Sequencing
  • Hermansky-Pudlak Syndrome: HPS4 Gene Deletion/Duplication
  • Hermansky-Pudlak Syndrome: HPS4 Gene Sequencing
  • Jalili Syndrome: CNNM4 Gene Deletion/Duplication
  • Jalili Syndrome: CNNM4 Gene Sequencing
  • Leber Hereditary Optic Neuropathy (LHON) Screening: Targeted Mutation Analysis
  • Optic Atrophy: Sequencing and Deletion/Duplication Panel
  • Retinitis Pigmentosa 59: DHDDS Gene Sequencing
  • Retinoblastoma: RB1 Gene Deletion/Duplication
  • Retinoblastoma: RB1 Gene Sequencing

Тесты на базе лаборатории GeneDx

  • Achromatopsia
  • Aniridia
  • Anophthalmia
  • Anterior Segment Dysgenesis
  • Axenfeld-Rieger Syndrome
  • Best Vitelliform Macular Dystrophy
  • Bestrophinopathy, Autosomal Recessive
  • Bothnia retinal dystrophy
  • Choroideremia
  • Cone-Rod Dystrophy, Autosomal Dominant
  • Cone-Rod Dystrophy, Autosomal Recessive
  • Congenital Nystagmus, X-linked
  • Congenital Stationary Night Blindness, Autosomal Dominant
  • Congenital Stationary Night Blindness, Autosomal Recessive
  • Congenital Stationary Night Blindness, X-Linked
  • Enhanced S-Cone Syndrome
  • Familial Exudative Vitreoretinopathy
  • Foveomacular Vitelliform Dystrophy, Adult-onset
  • Fundus Albipunctatus
  • Fundus Flavimaculatus
  • Glaucoma, Juvenile Open Angle
  • Glaucoma, Primary Congenital
  • Glaucoma, Primary Open Angle
  • Goldmann-Favre Syndrome
  • Iris Hypoplasia
  • Leber Congenital Amaurosis, Autosomal Dominant
  • Leber Congenital Amaurosis, Autosomal Recessive
  • Macular Dystrophy, Autosomal Dominant
  • Macular Dystrophy, Autosomal Recessive
  • Microphthalmia
  • Microphthalmia, Lenz Syndrome
  • Newfoundland Rod-Cone Dystrophy
  • Norrie Disease
  • Oculo Facio Cardio Dental Syndrome
  • Peter's Anomaly
  • Retinitis Pigmentosa, Autosomal Dominant (adRP)
  • Retinitis Pigmentosa, Autosomal Recessive (arRP)
  • Retinitis Pigmentosa, X-linked
  • Retinitis Punctata Albescens
  • Retinoschisis, Juvenile X-Linked
  • Rieger Syndrome
  • Septo-Optic Dysplasia
  • Stargardt Disease
  • Usher Syndrome
  • Vitreoretinochoroidopathy, Autosomal Dominant

актуально на: апрель 2014

 
 
 
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