GENETIC TESTING REQUISITION

1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Attention Patient: Please visit your nearest LifeLabs or CML Healthcare Patient Service Centre for sample collection LL: K012-01/ CML: CEN CONTRACT #

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Please ship all NON-PRENATAL samples to: LifeLabs · Attn CDS Department • 100 International Boulevard• Toronto ON• M9W6J6 TEST REQUESTED LL TR # / CML TC# □ Genetic Test - Blood Sample 2 x 4mL EDTA 4005 □ Genetic Test (Pediatric) - Blood Sample 1 x 2mL EDTA 4008 □ Genetic Test - Other Sample Type 4014 PRENATAL SAMPLES: Please ship directly to CENTOGENE.

Date Blood Collected (YYYY/MM/DD): ______Time Blood Collected (HH:MM)) :______Collector Name: ______

GENETIC TESTING CONSENT I understand that a DNA specimen will be sent to LifeLabs for genetic testing. My physician has told me about the condition(s) being tested and its genetic basis. I am aware that correct information about the relationships between my family members is important. I agree that my specimen and personal health information may be sent to Centogene AG at their lab in Germany (address below). To ensure accurate testing, I agree that the results of any genetic testing that I have had previously completed by Centogene AG may be shared with LifeLabs. I understand that LifeLabs will contact me for a new specimen if a test result cannot be provided from the original specimen. I agree that a copy of my results will be sent to my ordering physician. I further agree that for any test(s) performed by Centogene AG, a copy of my results will also be sent to LifeLabs. I understand that once the requested test(s) has/have been completed, any remaining sample will be stored at the testing laboratory.

OPTIONAL CONSENT : Please Initial where appropriate

_____ I agree that my de-identified sample may be used for product development or research purposes. I understand that I will not receive any royalties, resultant payments, benefits or rights to products or discoveries. _____ I do not want my remaining sample to be stored. Please destroy any remaining sample once the final report has been issued. _____ I have had genetic testing completed in the past by the following laboratories: ______I agree that Centogene AG and LifeLabs may obtain a copy of these genetic test results from the testing laboratory.

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** LIFELABS/CML STAFF: PHOTOCOPY REQUISITION AND INCLUDE 1 COPY WITH SAMPLES**

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GENETIC TESTING REQUISITION OPHTHALMOLOGY 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Sample Type: □ *Blood (EDTA: 5mL for single , 10mL for panel)

□ DNA (single gene:1-10ug, panel 10-100ug)

□ *Filter card (1 card/30 exons: Available by request) LifeLabs Demographic □ Saliva (Oragene OG-510: Available by request) Label

□ Fibroblast/Skin Biopsy (0.5cm2)

□ Cultured cells (1 flask, min 25cm2, 80-90% confluent)

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* Exact amount depends on size of panel, see www.centogene.com ** Please contact us prior to sending cells

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Patient Information: Gender: □M □ F Ethnicity: ______Additional patient medical information:

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Page 2/6 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan2015

GENETIC TESTING REQUISITION OPHTHALMOLOGY 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Please indicate requests for Hot Spot (H), Sequencing (S), and/or Deletion/Duplication (D) analysis

Albinism

NGS Panels:

D S Albinism panel (GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1) S (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3) Hermansky-Pudlak syndrome panel Single :

H D S Aland Island (CACNA1F) D S Hermansky-Pudlak syndrome type 1 (HPS1)

H D S Albinism, ocular type I, Nettleship-Falls type (GPR143) D S Hermansky-Pudlak syndrome type 2 (AP3B1)

D S Albinism, oculocutaneous nonsyndromic (SLC24A5) D S Hermansky-Pudlak syndrome type 3 (HPS3)

H D S Albinism, oculocutaneous type 1B (TYR) D S Hermansky Pudlak syndrome type 4 (HPS4)

H D S Albinism, oculocutaneous type 1A (TYR) D S Hermansky-Pudlak syndrome type 5 (HPS5)

H D S Albinism, oculocutaneous type 2 (OCA2) D S Hermansky-Pudlak syndrome type 6 (HPS6)

D S Albinism, oculocutaneous type 3 (TYRP1) D S Hermansky-Pudlak syndrome type 7 (DTNBP1)

H D S Albinism, oculocutaneous type 4 (SLC45A2) D S Hermansky-Pudlak syndrome type 8 (BLOC1S3)

D S Albinism, oculocutaneous type 5 (C10ORF11) D S Melanoma, cutaneous malignant (MC1R)

D S Chediak-Higashi syndrome (LYST) H D S Melanoma, cutaneous malignant (MITF)

D S Griscelli syndrome type 1 (MYO5A) H D S Tietz albinism-deafness syndrome (MITF)

D S Griscelli syndrome type 3 (MLPH) H D S Waardenburg syndrome/albinism (TYR)

H D S Waardenburg syndrome/albinism (MITF)

Cataracts, Glaucoma & Oculomotor

NGS Panels:

S panel (AGK,CRYAA,CRYAB,CRYBB1,CRYBB3,CTDP1,FYCO1,GCNT2,GJA8,HSF4,LIM2,SIL1,TDRD7) D S Oculomotor apraxia panel (APTX, PIK3R5, SETX) D S Ophthalmoplegia (progressive external) panel (C10ORF2, DNA2, OPA1, POLG1, POLG2, RRM2B, SLC25A4, TYMP) Single genes:

D S Ataxia-oculomotor apraxia type 1 (APTX) D S Duane Retraction syndrome (CHN1)

D S Ataxia-oculomotor apraxia type 2 (SETX) D S Duane Retraction syndrome (SALL4)

D S Ataxia-oculomotor apraxia type 3 (PIK3R5) D S Fibrosis of extraocular muscles, congenital type 1 (KIF21A)

D S Cataract, autosomal dominant (GCNT2) D S Fibrosis of extraocular muscles, congenital type 2 (PHOX2A)

D S Cataract, autosomal recessive congenital nuclear type 2 (CRYBB3) D S Fibrosis of extraocular muscles, congenital type 3A (TUBB3)

D S Cataract, autosomal recessive congenital nuclear type 3 (CRYBB1) D S Glaucoma, open angle type 1A (MYOC)

D S Cataract, autosomal recessive congenital type 1 (CRYAA) D S Glaucoma, open angle type 1E (OPTN)

D S Cataract, autosomal recessive congenital type 2 (FYCO1) D S Glaucoma, open angle type 1G (WDR36)

D S Cataract, autosomal recessive congenital type 4 (TDRD7) D S Glaucoma, primary type 3A (CYP1B1)

D S Cataract, autosomal recessive type 38 (AGK) D S Glaucoma, primary type 3D (LTBP2)

D S Cataract, X linked (NHS) D S Hyperferritinemia-cataract syndrome (FTL)

D S Cataract, type 23 (CRYBA4) D S Iridogoniodysgenesis, type 1 (FOXC1)

D S Cataract, congenital, associated with Marinesco-Sjogren Syndrome (SIL1) D S Nystagmus type 1 (FRMD7)

D S Cataract, cortical pulverulent, late-onset (LIM2) H D S Nystagmus type 6 (GPR143)

D S Cataract, lamellar (HSF4) H D S Progressive external ophthalmoplegia with mitochondrial deletions type 1 (POLG)

Progressive external ophthalmoplegia with mitochondrial deletions type 3 D S Cataract, posterior polar type 2 (CRYAB) D S (C10ORF2) Progressive external ophthalmoplegia with mitochondrial deletions type 4 D S Cataract-microcornea syndrome (GJA8) D S (POLG2) Progressive external ophthalmoplegia with mitochondrial deletions, autosomal D S with facial dysmorphism and neuropathy (CTDP1) H D S recessive (POLG) D S Cataracts, pulverulent or cerulean, with or without microcornea (MAF)

Retinitis Pigmentosa

NGS Panels: Retinitis pigmentosa (ABCA4, BEST1, CA4, CRX, CLRN1, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, D S RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS) autosomal dominant panel Retinitis pigmentosa (ABCA4, ARL6, BBS1, BEST1, C2ORF71, C8ORF38, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, GNPTG, IDH3B, IMPG2, LRAT, D S MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RBP3, RDH12, RGR, RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, SEMA4A, SPATA7, autosomal recessive panel TTC8, TULP1, USH2A, ZNF513)

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GENETIC TESTING REQUISITION OPHTHALMOLOGY 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Retinitis Pigmentosa (continued)

Single genes:

D S Retinitis pigmentosa type 12, autosomal recessive (CRB1) D S Retinitis pigmentosa type 66, autosomal recessive (RBP3) D S Retinitis pigmentosa type 14, autosomal recessive (TULP1) D S Retinitis pigmentosa, juvenile, autosomal recessive (SPATA7) D S Retinitis pigmentosa type 19, autosomal recessive (ABCA4) H D S Retinitis pigmentosa type 1, autosomal dominant (RP1) D S Retinitis pigmentosa type 20, autosomal recessive (RPE65) H D S Retinitis pigmentosa type 4, autosomal dominant/recessive (RHO) D S Retinitis pigmentosa type 25, autosomal recessive (EYS) D S Retinitis pigmentosa type 7, autosomal dominant (ROM1) D S Retinitis pigmentosa type 26, autosomal recessive (CERKL) H D S Retinitis pigmentosa type 7, autosomal dominant (PRPH2) D S Retinitis pigmentosa type 28, autosomal recessive (FAM161A) D S Retinitis pigmentosa type 9, autosomal dominant (RP9) D S Retinitis pigmentosa type 36, autosomal recessive (PRCD) D S Retinitis pigmentosa type 10, autosomal dominant (IMPDH1) D S Retinitis pigmentosa type 38, autosomal recessive (MERTK) D S Retinitis pigmentosa type 11, autosomal dominant (PRPF31) D S Retinitis pigmentosa type 39, autosomal recessive (USH2A) D S Retinitis pigmentosa type 13, autosomal dominant (PRPF8) D S Retinitis pigmentosa type 40, autosomal recessive (PDE6B) D S Retinitis pigmentosa type 17, autosomal dominant (CA4) D S Retinitis pigmentosa type 41, autosomal recessive (PROM1) D S Retinitis pigmentosa type 18, autosomal dominant (PRPF3) D S Retinitis pigmentosa type 43, autosomal recessive (PDE6A) D S Retinitis pigmentosa type 19, autosomal dominant (ABCA4) D S Retinitis pigmentosa type 45, autosomal recessive (CNGB1) D S Retinitis pigmentosa type 27, autosomal dominant (NRL) D S Retinitis pigmentosa type 46, autosomal recessive (IDH3B) D S Retinitis pigmentosa type 30, autosomal dominant (FSCN2) D S Retinitis pigmentosa type 47, autosomal recessive (SAG) D S Retinitis pigmentosa type 31, autosomal dominant (TOPORS) D S Retinitis pigmentosa type 49, autosomal recessive (CNGA1) D S Retinitis pigmentosa type 33, autosomal dominant (SNRNP200) D S Retinitis pigmentosa type 51, autosomal recessive (TTC8) H D S Retinitis pigmentosa type 35, autosomal dominant/recessive (SEMA4A) D S Retinitis pigmentosa type 53, autosomal recessive (RDH12) H D S Retinitis pigmentosa type 37, autosomal dominant/recessive (NR2E3) D S Retinitis pigmentosa type 54, autosomal recessive (C2ORF71) D S Retinitis pigmentosa type 42, autosomal dominant (KLHL7) H D S Retinitis pigmentosa type 55, autosomal recessive (ARL6) D S Retinitis pigmentosa type 44, autosomal dominant/recessive (RGR) D S Retinitis pigmentosa type 56, autosomal recessive (IMPG2) D S Retinitis pigmentosa type 48, autosomal dominant (GUCA1B) D S Retinitis pigmentosa type 57, autosomal recessive (PDE6G) D S Retinitis pigmentosa type 50, autosomal dominant (BEST1) D S Retinitis pigmentosa type 58, autosomal recessive (ZNF513) D S Retinitis pigmentosa type 60, autosomal dominant (PRPF6) D S Retinitis pigmentosa type 59, autosomal recessive (DHDDS) D S Retinitis pigmentosa juvenile (LRAT) D S Retinitis pigmentosa type 61, autosomal recessive (CLRN1) H D S Retinitis pigmentosa type 2 X-linked (RP2) D S Retinitis pigmentosa type 62, autosomal recessive (MAK) H D S Retinitis pigmentosa type 3 X-linked (RPGR) D S Retinitis pigmentosa type 64, autosomal recessive (C8ORF37) D S Retinitis pigmentosa type 23 X-linked (OFD1)

Retinopathies

NGS Panels:

Cone-rod and cone dystrophy panel (ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, D S GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119)

D S Flecked panel (CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, VPS13B) (AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, D S Leber congenital amaurosis panel SPATA7, TULP1) D S Stargardt disease panel (ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, PRPH2, RDH12, RP1L1, RPGR, TIMP3) Single genes:

D S Achromatopsia type 2 (CNGA3) D S Cone-rod dystrophy type 11 (RAX2)

D S Achromatopsia type 3 (CNGB3) D S Cone-rod dystrophy type 12 (PROM1)

D S Achromatopsia type 4 (GNAT2) D S Cone-rod dystrophy type 13 (RPGRIP1)

D S Achromatopsia type 6 (PDE6H) D S Cone-rod dystrophy type 14 (GUCA1A)

D S Bestrophinopathy (BEST1) D S Cone-rod dystrophy type 15 (CDHR1)

D S Bothnia retinal dystrophy (RLBP1) D S Choroideremia (CHM)

D S Bradyopsia (RGS9) D S Doyne honeycob retinal dystrophy (EFEMP1)

D S Bradyopsia (RGS9BP) D S Exudative vitreoretinopathy (FZD4)

D S Cone-rod dystrophy (UNC119) D S Exudative vitreoretinopathy type 2 (NDP)

D S Cone-rod dystrophy (AIPL1) D S Exudative vitreoretinopathy type 5 (TSPAN12)

D S Cone-rod dystrophy type 2 (CRX) D S Fleck retina, familial benign (PLA2G5)

D S Cone-rod dystrophy type 3 (ABCA4) D S Fundus albipunctatus (RDH5)

H D S Cone-rod dystrophy, X-linked type 3 (CACNA1F) H D S Fundus albipunctatus (PRPH2) D S Cone-rod dystrophy type 4 (PDE6C) D S Fundus flavimaculatus (ABCA4)

D S Cone-rod dystrophy type 5 (PITPNM3) H D S Fundus flavimaculatus (PRPH2)

D S Cone-rod dystrophy type 7 (RIMS1) D S Leber congenital amaurosis type 1 (GUCY2D)

D S Cone-rod dystrophy type 9 (ADAM9) D S Leber congenital amaurosis type 3 (SPATA7)

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GENETIC TESTING REQUISITION OPHTHALMOLOGY 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Retinopathies (continued)

Single genes:

D S Leber congenital amaurosis type 5 (LCA5) D S Night blindness, congenital stationary type 2B (CABP4)

D S Leber congenital amaurosis type 6 (RPGRIP1) D S Night blindness, congenital stationary type 3 (GNAT1)

D S Leber congenital amaurosis type 7 (CRX) D S Night blindness, congenital stationary, type 1E (GPR179)

D S Leber congenital amaurosis type 9 (NMNAT1) H D S Occult macular dystrophy (RP1L1)

D S Leber congenital amaurosis type 11 (IMPDH1) D S Oguchi disease (SAG)

D S Leber congenital amaurosis type 12 (RD3) D S Oguchi disease (GRK1)

D S Leber congenital amaurosis type 16 (KCNJ13) H D S Patterned dystrophy of retinal pigment epithelium (PRPH2)

D S Leber congenital amaurosis type 17 (GDF6) D S Retinal cone dystrophy type 3B (KCNV2)

D S Leber congenital amaurosis with myopathy (DTHD1) D S Retinal cone dystrophy type 4 (CACNA2D4)

D S Macular degeneration, age-related type 6 (RAX2) D S Retinal degeneration, late-onset, autosomal dominant (C1QTNF5)

D S Macular degeneration, age-related type 11 (CST3) D S Retinal dystrophy, early-onset severe (ABCA4)

D S Macular dystrophy retinal type 2 (PROM1) D S Retinal nonattachment nonsyndromic congenital (ATOH7)

D S Macular dystrophy, vitelliform (BEST1) D S Retinoschisis (RS1)

H D S Macular dystrophy, vitelliform (PRPH2) D S Sorsby fundus dystrophy (TIMP3) D S Night blindness, congenital stationary type 1A (NYX) D S Stargardt Disease type 1 (ABCA4)

D S Night blindness, congenital stationar type 1B (GRM6) D S Stargardt Disease type 1 (CNGB3)

D S Night blindness, congenital stationary type 1C (TRPM1) D S Stargardt Disease type 3 (ELOVL4) D S Night blindness, congenital stationary type 2A (CACNA1F) D S Stargardt Disease type 4 (PROM1)

Other

NGS Panels: (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, EXOC8, INPP5E, KIF7, MSK1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, D S Joubert syndrome panel TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423)

D S Leber optic atrophy panel (MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND4, MT-ND4L, MT-ND5, MT-ND6) D S panel (ALDH1A3, BCOR, BMP4, HCCS, MITF, OTX2, RAX, SIX6, SOX2, STRA6, TENM1, TENM3, VSX2) D S Optic atrophy panel (AUH, C12ORF65, CISD2, NDUFS1, OPA1, OPA3, POLG, SPG7, TIMM8A, TMEM126A, WFS1) D S panel (COL2A1, COL9A1, COL9A2, COL11A1, COL11A2)

D S Usher syndrome panel (CDH23, CIB2, CLRN1, DFNB31, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A) Single genes: D S Axenfeld-Rieger syndrome type 3 (FOXC1) D S Joubert syndrome type 16 (TMEM138) D S Axenfeld-Rieger syndrome type 3 (PITX2) D S Joubert syndrome type 17 (C5orf42)

D S Axenfeld-Rieger syndrome type 3 (PAX6) D S Joubert syndrome type 18 (TCTN3)

D S Axenfeld-Rieger syndrome type 3 (CYP1B1) D S Joubert syndrome type 20 (TMEM231)

D S Alstrom syndrome (ALMS1) D S Joubert syndrome type 21 (CSPP1)

D S , epicanthus inversus, and (FOXL2) D S Joubert syndrome, EXOC8 related (EXOC8)

D S Blepharophimosis-ptosis-intellectual disability syndrome (UBE3B) D S Joubert syndrome, EXOSC8 related (EXOSC8)

D S Brittle syndrome (ZNF469) D S Knobloch syndrome type 1 (COL18A1)

H D S Choroidal dystrophy, central areolar type 2 (PRPH2) D S Leber congenital neuropathy (MT-CYB) D S Coat plus syndrome (CTC1) D S Leber optic atrophy (MT-CO1)

D S Colobomatous microphthalmia (TENM1) D S Leber optic atrophy (MT-CO3)

D S Corneal dystrophy, epithelial (TGFB1) D S Leber optic atrophy (MT-ND1)

D S Corneal endothelial dystrophy 2 (SLC4A11) D S Leber optic atrophy (MT-ND2)

D S Corneal intraepithelial dyskeratosis and ectodermal dysplasia (NLRP1) D S Leber optic atrophy (MT-ND4)

D S Ectodermal dysplasia, ectrodactyly, and macular dystrophy (CDH3) D S Leber optic atrophy (MT-ND4L)

D S et pupillae (ADAMTSL4) D S Leber optic atrophy (MT-ND5)

D S Ectopia lentis, isolated, autosomal recessive (ADAMTSL4) D S Leber optic atrophy (MT-ND6)

D S Gaze palsy, horizontal, with progressive scoliosis (ROBO3) D S Leber optic atrophy (MT-ATP6)

D S Gyrate atrophy of choroid and retina with or without ornithinemia (OAT) D S Mainzer Saldino syndrome (IFT140) D S Jalili syndrome (CNNM4) D S , X-linked (CHRDL1)

D S Joubert syndrome type 1 (INPP5E) D S Microphthalmia, isolated type 2 (VSX2) D S Joubert syndrome type 2 (TMEM216) D S Microphthalmia, isolated type 3 (RAX) D S Joubert syndrome type 3 (AHI1) D S Microphthalmia, isolated type 4 (GDF6) D S Joubert syndrome type 4 (NPHP1) D S Microphthalmia, isolated type 9 (GDF3) D S Joubert syndrome type 5 (CEP290) D S Microphthalmia, isolated with type 3 (VSX2) D S Joubert syndrome type 6 (TMEM67) D S Microphthalmia, isolated with coloboma type 6 (GDF3) D S Joubert syndrome type 7 (RPGRIP1L) D S Microphthalmia syndromic type 2 (BCOR) D S Joubert syndrome type 9 (CC2D2A) D S Microphthalmia syndromic type 3 (SOX2) D S Joubert syndrome type 10 (OFD1) D S Microphthalmia syndromic type 4 (OTX2) D S Joubert syndrome type 13 (TCTN1) D S Microphthalmia syndromic type 6 (BMP4) D S Joubert syndrome type 14 (TMEM238) D S Microphthalmia syndromic type 6 (SIX6) D S Joubert syndrome type 15 (CEP41) D S Microphthalmia syndromic type 7 (HCCS)

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GENETIC TESTING REQUISITION OPHTHALMOLOGY 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Other (continued)

D S Microphthalmia syndromic type 8 (ALDH1A3) D S Stickler syndrome type 3 (COL11A2) D S Microphthalmia syndromic type 9 (STRA6) H D S Stickler syndrome, autosomal recessive (COL9A1) D S Microspherophakia and/or megalocornea (LTBP2) D S Stickler syndrome, type 5 (COL9A2) D S Nonarteritic anterior ischemic optic neuropathy (GP1BA) D S Usher syndrome type 1D/F (PCDH15) D S Oculodentodigital dysplasia (GJA1) D S Usher syndrome type 1D/F (CDH23) D S Optic atrophy (TMEM126A) D S Usher syndrome type 1G (USH1G) D S Optic atrophy type1 (OPA1) H D S Usher syndrome type IJ (CIB2) D S Optic atrophy type 3 (OPA3) D S Usher syndrome type 2C (GPR98) Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and D S Usher syndrome type 2C (PDZD7) D S neuropathy (OPA1) D S Peters Anomaly (CYP1B1) D S Usher syndrome type 3A (CLRN1) D S Peters-Plus syndrome (B3GALTL) D S Phelan-McDermid syndrome (SHANK3) D S Vitreoretinochoroidopathy (BEST1) D S Retinoblastoma (RB1) D S Wagner syndrome (VCAN) D S Revesz syndrome (TINF2) D S Warburg micro syndrome type 1 (RAB3GAP1) D S Rieger syndrome (FOXC1) D S Warburg micro syndrome type 3 (RAB18) D S Rieger syndrome (PITX2) H D S Weill-Marchesani syndrome - AD (FBN1) D S Rieger syndrome (CYP1B1) D S Weill-Marchesani syndrome - AR (ADAMTS10) D S Rieger syndrome (PAX6) D S Weill-Marchesani syndrome type 3 (LTBP2) D S Senior-Loken syndrome type 5 (IQCB1) D S Wolfram syndrome type 1 (WFS1) H D S Stickler syndrome type 1 (COL2A1) D S Wolfram syndrome type 2 (CISD2) H D S Stickler syndrome type 2 (COL11A1)

Page 6/6 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan2015