Asper Ophthalmics
About company | ABCR genetic test | Usher syndrome test | Leber congenital amaurosis (LCA) test | Autosomal recessive retinitis pigmentosa (AR-RP) test | Autosomal dominant retinitis pigmentosa (AD-RP) test | Bardet Biedl syndrome (BBS) test | Autosomal Dominant Optic Atrophy (OPA1 gene) test | Corneal dystrophy test | Congenital stationary night blindness | How to order the testing service? | Contact data
About company
Asper Ophthalmics is a division of Asper Biotech. Asper Biotech has developed a number of DNA testing applications during its operations since 1999. Asper Ophthalmics combines the experience and reputation of high quality DNA testing company of Asper Biotech, as well as our increasing focus on ophthalmics. We wish to be the partner of choice for all ophthalmo-genetics institutions – research institutions, DNA testing centers, patient organizations, commercial entities - to develop new tests covering the latest genetic data available about the diseases.
ABCR (ABCA4) TESTING
The
genetic test can be used for screening mutations in ATP-Binding
Cassette Transporter gene. Genetic variations in the ABCR gene have been
associated with several retinal phenotypes, including Stargardt disease/fundus
flavimaculatus, cone rode dystrophy, and age related macular degeneration.
Current version of the ABCR test includes 496 mutations throughout the whole
gene.
LEBER CONGENITAL AMAUROSIS (LCA) TESTING
Leber congenital
amaurosis mutation detection test can be used for screening mutations in 12 LCA or early-onset RP
genes: AIPL1, CRB1, CRX, GUCY2D, LRAT, TULP1, MERTK, RPGRIP1, RPE65,
CEP290, LCA5 and RDH12.
Current version of the test includes 495 known mutations.
USHER SYNDROME TESTING
The
genetic test can be used for screening mutations in CDH23, MYO7A, PCDH15,
Harmonin, SANS, Usherin, VLGR1, USH3A. These genes have been related USH1B,
USH1C, USH1D, USH1F, USH1G, USH2A, USH2C, USH3. Current version of the test
includes 429 known mutations.
Autosomal Recessive Retinitis Pigmentosa (AR-RP) testing
The
Autosomal Recessive Retinitis Pigmentosa (AR-RP) test is the most
comprehensive genetic test available for screening mutations in a number of
genes associated with the disease:
CERKL,
CNGA1, CNGB1, MERTK, PDE6A, PDE6B, PNR, RDH12, RGR, RLBP1, SAG, TULP1, CRB,
RPE65, USH2A, USH3A, LRAT. The number of mutations to be tested by
AR-RP test is 501.
Autosomal DOMINANT Retinitis Pigmentosa genetic testing
The Autosomal Dominant Retinitis Pigmentosa (AD-RP) test enables analysis of 353 mutations in 13 genes: CA4, FSCN2, IMPDH1, NRL, PRPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX.
Bardet Biedl Syndrome testing
Bardet
Biedl Syndrome (BBS) test has been established for screening 237 mutations
from 14 genes: BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, BBS10,
BBS12, PHF6, ALMS1, GNAS1.
AUTOSOMAL DOMINANT OPTIC ATROPHY (OPA1 GENE) TEST
Autosomal dominant optic atrophy (OPA1 gene) chip enables to analyze 118 genetic variations within OPA1 gene.
Currently
the test can be used for screening of 297 mutations in 12 different genes: COL8A2,
TGFBI, VSX1, CHST6, KRT3, KRT12, GSN, TACSTD2, CYP4V2, SOD1, TCF8/ZEB1, SLC4A11.
The genetic test has been developed for
screening mutations of three forms of CSNB: autosomal dominant (ad), autosomal
recessive (ar) and X-linked (xl) CSNB. Currently the test can be used for
screening of 126 mutations in 9 genes: RHO, PDE6B, GNAT1, CABP4, GRM6, SAG, NYX,
CACNA1F and CACNA2D.
How to order the testing service?
1. In case of interest in the listed DNA testing services, please contact Asper for pricing information.
2. Prepare the required amount of high-quality DNA.
3. Fill in the DNA sample submission form (downloadable at our homepage) and enclose it in the shipment.
4. Enclose the list of samples with DNA concentrations and volumes listed in the package.
5. Please follow our detailed instructions for secure sample shipments available at our homepage.
6. For speedy and secure delivery use courier services (DHL, UPD, FedEx, etc); alternatively, you can send the samples as a small postal parcel.
7. Notify us by email info@asperophthalmics.com or info@asperbio.com.
8. Asper notifies you of the samples arrival immediately.
9. Asper delivers the results in an electronic or paper format to the address specified by you.
CONTACT DATA
| Postal address | Asper Biotech AS, Oru 3, 51014 Tartu, Estonia |
| Telephone | +372 7 441 556, |
| FAX | +372 7 442 343, |
| info@asperbio.com |