Asper Ophthalmics

Asper Ophthalmics offers premium quality genetic testing for a variety of genetic disorders. DNA testing will be performed in a well established ISO 9001:2000 quality control environment. Genetic tests have been developed and validated in collaboration with
leading eye disease geneticists.

VITELLIFORM MACULAR DYSTROPHY TESTING
The genetic test can be used for screening 138 positions in the BEST1 or the bestrophine gene, which is associated with degeneration of the macula which, in its early-onset form is described as the Best disease.

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. Current version of the ABCR test includes 519 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, CEP290, RDH12, RPGRIP1, LCA5 and RPE65. 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, PROML1. The number of mutations to be tested by AR-RP test is 585.

Autosomal DOMINANT Retinitis Pigmentosa (AD-RP) genetic testing
The Autosomal Dominant Retinitis Pigmentosa (AD-RP) test enables analysis of 370 mutations in 15 genes: CA4, FSCN2, IMPDH1, NRL, PRPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX, TOPORS and PNR.

Bardet Biedl Syndrome testing
Bardet Biedl Syndrome (BBS) test has been established for screening 308 mutations from 14 genes: BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, BBS10, BBS12, PHF6, ALMS1, GNAS1.

AUTOSOMAL DOMINANT OPTIC ATROPHY (OPA1 GENE) TESTING
OPA1 chip enables to analyze 118 genetic variations within OPA1 gene. It has been shown that the mutations in OPA1 gene have strong association with autosomal dominant optic atrophy.

Corneal dystrophy testing
The test can be used for screening of 297 mutations in different genes: COL8A2, TGFBI, VSX1, CHST6, KRT3, KRT12, GSN, TACSTD2, CYP4V2, SOD1, TCF8/ZEB1, SLC4A11. Genetic variations in the 12 listed genes have been associated with several corneal dystrophies.

CONGENITAL STATIONARY NIGHT BLINDNESS TESTING
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.