DNA Sample Submission to Asper Biotech

ASPER OPHTHALMICS SAMPLE SUBMISSION FORM

ORDERING PERSON AND REPORTING ADDITIONAL REPORTING INFORMATION INFORMATION (if applicable) Name (first name, last name) Institution Address E-mail Phone Results delivery by e-mail by regular mail

Sample receipt Person confirmation E-mail BILLING INFORMATION By submitting DNA samples to Asper Biogene the client agrees that invoices shall be paid within 10 calendar days as of the invoice date and in case of delay in the payment, the open invoice amounts will accrue interest amounting to 0,1 % per calendar day. Contact person Institution Address E-mail Phone VAT account number In EU countries please add paying institution's VAT account number, otherwise 20% of VAT tax will be added to the invoice. PO number Invoice delivery by e-mail by regular mail SAMPLE INFORMATION Type whole blood in EDTA DNA Other...... Date of collection

Fetal sample (for prenatal testing) Maternal sample (for prenatal testing)

Date of collection DNA from CVS DNA from Type DNA whole blood in EDTA amniocentesis Method and/or kit of DNA extraction PATIENT INFORMATION

Date of birth Sex Ethnic origin

Clinical diagnosis

ASPER BIOGENE LLC • reg Nº 14265334 • Vaksali 17A, 50410 Tartu, Estonia 1 phone +372 7307 295 • fax +372 7307 298 • [email protected] • www.asperbio.com TESTS REQUIRED

NGS panel of genes Achromatopsia Single mutation

NGS panel of genes* Age-related macular degeneration Targeted mutation analysis

Sequencing of PAX6 gene Aniridia Single mutation

NGS panel of genes Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Single mutation

Targeted regions sequencing by NGS

Autosomal Dominant Optic Atrophy NGS panel of genes

Single mutation

Autosomal Dominant Retinitis Pigmentosa NGS panel of genes

Single mutation

NGS panel of genes Autosomal Recessive Retinitis Pigmentosa Sequencing of RPE65 gene

Single mutation

Targeted regions sequencing by NGS Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström NGS panel of genes Syndrome, Albright Hereditary Osteodystrophy Single mutation

NGS panel of genes Cataract Single mutation

Sequencing of CHM gene Choroideremia Single mutation

NGS panel of genes Cone-Rod Dystrophy Single mutation

TESTS REQUIRED

ASPER BIOGENE LLC • reg Nº 14265334 • Vaksali 17A, 50410 Tartu, Estonia 2 phone +372 7307 295 • fax +372 7307 298 • [email protected] • www.asperbio.com NGS panel of genes Congenital Stationary Night Blindness Single mutation

NGS panel of genes Corneal Dystrophy Single mutation

NGS panel of genes Glaucoma Single mutation

Leber Congenital Amaurosis NGS panel of genes

Single mutation

Leber Hereditary Optic Neuropathy Targeted mutation analysis

Sequencing of NDP gene Norrie Disease Single mutation

NGS panel of genes Oculocutaneous Albinism, Ocular Albinism, Hermansky- PudlakSyndrome, Chediak-Higashi Syndrome Single mutation

Sequencing of PAX2 gene Papillorenal Syndrome Single mutation

Sequencing of RB1 gene Retinoblastoma Single mutation

Sequencing of ABCA4 gene

Stargardt Disease NGS panel of genes

Single mutation

Usher Syndrome NGS panel of genes

Single mutation

Sequencing of BEST1 gene

Vitelliform Macular Dystrophy NGS panel of genes

Single mutation

TESTS REQUIRED

ASPER BIOGENE LLC • reg Nº 14265334 • Vaksali 17A, 50410 Tartu, Estonia 3 phone +372 7307 295 • fax +372 7307 298 • [email protected] • www.asperbio.com Targeted regions sequencing by NGS (incl ORF15) NGS panel of genes (incl ORF15) X-Linked Retinitis Pigmentosa Sequencing of ORF15

Single mutation

X-Linked Retinoschisis Sequencing of RS1 gene

Single mutation

Eye Diseases NGS panel of 277 genes * Clinical interpretation is not available

Service includes DNA extraction Genotyping Confirmation of disease associated variants by Sanger sequencing Interpretation The results report by registered mail Targeted mutation analyses results will be delivered by 2-4 weeks NGS-based test results will be delivered by 6-9 weeks

PATIENT’S CLINICAL INFORMATION

Reason for referral confirmation of clinical diagnosis carrier testing presymptomatic testing risk estimation (AMD) prenatal testing

Age at the onset of symptoms…………......

Eye fundus changes peripheral intraretinal pigment deposits macular degeneration central intraretinal pigment deposits chorioretinal dystrophy corneal dystrophy - ………………… type chorioretinal degeneration maculopathy …………………………………….

Visual loss central vision loss blindness colour vision deficiency ………………...... far peripheral vision loss tunnel vision

ERG (electroretinogram) results reduced rod response amplitude delayed B-wave implicit time (IT) reduced cone response amplitude ……………………………………..

Refraction test result……………………………......

Involvement of other organs kidney malformation vestibular function disorder polydactyly hearing loss: moderate severe profound other……………………………......

ASPER BIOGENE LLC • reg Nº 14265334 • Vaksali 17A, 50410 Tartu, Estonia 4 phone +372 7307 295 • fax +372 7307 298 • [email protected] • www.asperbio.com Previous genetic testing not done results: ......

Family history unknown diagnosis…………………………………………………………………………………………………………...... specify the relation to the proband………………………………………………………………………………......

Authorization to use remaining sample material and test results Asper Biogene may use de-identified (without personal identifying information) remaining sample material and test results for quality improvements and/or scientific purposes.

I give my consent to use my de-identified sample material and test results as described above I do not give my consent to use my de-identified sample material and test results as described above

Name of patient……………………………………………………………………………………………………………………… Patient’s signature…………………………………………………………………………………………………………………… Date……………………………………………………………………………………………………………………………………

Important: By sending samples and placing an order customer accepts the Terms and Conditions of Asper Biogene (see website for details).

ASPER BIOGENE LLC • reg Nº 14265334 • Vaksali 17A, 50410 Tartu, Estonia 5 phone +372 7307 295 • fax +372 7307 298 • [email protected] • www.asperbio.com