Sequencing of the ABCA4 gene
Asper Biotech is now offering sequence analysis of the entire coding region of the ABCA4 gene.
ABCA4
Stargardt Disease, Cone-Rod Dystrophy – ABCA4
Genetic variations in the ABCA4 gene have been associated with several retinal phenotypes, including Stargardt Disease (STGD) and cone-rod dystrophy. Autosomal recessive STGD is a juvenile-onset macular dystrophy associated with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks around the macula and/or in the central and near-peripheral areas of the retina. Autosomal recessive cone-rod dystrophy causes deterioration of the cone and rod photoreceptor cells and often results in blindness.
The causative gene of STGD is ABCA4, a member of the ATP binding cassette (ABC) transmembrane protein ABCA subfamily. The Stargardt genetic test enables analysis of 558 known mutations in ABCA4 genes.
Genetic testing helps to confirm the diagnosis of Stargardt Disease and cone-rod dystrophy and provides supportive information for genetic counseling. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
The test was developed in cooperation with Prof. Dr. Rando Allikmets from Columbia University (USA).
ORDERING
For further information:
Genotyping Microarray (Gene Chip) for the ABCR (ABCA4) Gene
Jaakson K, Zernant J, Kulm M, Hutchinson A, Tonisson N, Glavac¡ D, Ravnik-Glavac¡ M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FPM, and Allikmets R
Hum Mutat 2003; 22: 395–403.
Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele
Valverde D, Riveiro-Alvarez R, Bernal S, Jaakson K, Baiget M, Navarro R, Ayuso C
Molecular Vision 2006; 12: 902-908.
Arrayed primer extension on in situ synthesized 5′–>3′ oligonucleotides in microchannels
Pullat J, Kusnezow W, Jaakson K, Beier M, Hoheisel JD, Metspalu A.
N Biotechnol 2008 Oct-Dec; 25(2-3): 133-41. Epub 2008 Aug 14.
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa
Klevering BJ, Yzer S, Rohrschneider K, Zonneveld M, Allikmets R, van den Born LI, Maugeri A, Hoyng CB, Cremers FPM.
European Journal of Human Genetics (2004); 12: 1024–1032.
ABCA4
Stargardt Disease, Cone-Rod Dystrophy – ABCA4
Genetic variations in the ABCA4 gene have been associated with several retinal phenotypes, including Stargardt Disease (STGD) and cone-rod dystrophy. Autosomal recessive STGD is a juvenile-onset macular dystrophy associated with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks around the macula and/or in the central and near-peripheral areas of the retina. Autosomal recessive cone-rod dystrophy causes deterioration of the cone and rod photoreceptor cells and often results in blindness.
The causative gene of STGD is ABCA4, a member of the ATP binding cassette (ABC) transmembrane protein ABCA subfamily. The Stargardt genetic test enables analysis of 630 known mutations in ABCA4 genes. In addition to microarray based testing we are also offering sequence analysis of the entire coding region of the ABCA4 gene.
Genetic testing helps to confirm the diagnosis of Stargardt Disease and cone-rod dystrophy and provides supportive information for genetic counseling. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
View ordering information
For further information:
Arrayed primer extension on in situ synthesized 5′–>3′ oligonucleotides in microchannels
Pullat J, Kusnezow W, Jaakson K, Beier M, Hoheisel JD, Metspalu A.
N Biotechnol 2008 Oct-Dec; 25(2-3): 133-41. Epub 2008 Aug 14.
Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions
Koenekoop RK, Lopez I, den Hollander AI, Allikmets R, Cremers FP.
Clin Experiment Ophthalmol. 2007 Jul;35(5):473-85.
Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele
Valverde D, Riveiro-Alvarez R, Bernal S, Jaakson K, Baiget M, Navarro R, Ayuso C
Molecular Vision 2006; 12: 902-908.
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa
Klevering BJ, Yzer S, Rohrschneider K, Zonneveld M, Allikmets R, van den Born LI, Maugeri A, Hoyng CB, Cremers FPM.
European Journal of Human Genetics (2004); 12: 1024–1032.
Genotyping Microarray (Gene Chip) for the ABCR (ABCA4) Gene
Jaakson K, Zernant J, Kulm M, Hutchinson A, Tonisson N, Glavac¡ D, Ravnik-Glavac¡ M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FPM, and Allikmets R
Hum Mutat 2003; 22: 395–403.
Panel of ophthalmogenetic tests
Panel of genetic eye disease tests
- Stargardt Disease, Cone-Rod Dystrophy – ABCA4
- Autosomal Dominant Retinitis Pigmentosa – AD RP
- Autosomal Recessive Retinitis Pigmentosa – AR RP
- X-Linked Retinitis Pigmentosa – XL-RP
- Leber Congenital Amaurosis – LCA
- Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
- Vitelliform Macular Dystrophy – VMD
- Congenital Stationary Night Blindness – CSNB
- Corneal Dystrophy
- Autosomal Dominant Optic Atrophy – ADOA
- Age-Related Macular Degeneration – AMD
- Usher Syndrome
Asper Ophthalmics
Asper Ophthalmics
Asper Ophthalmics is a brand name of portfolio of tests targeting ocular disorders.
Collection of our tests is directed to wide variety of pathological conditions including retinal disorders, corneal dystrophies, age related ophthalmic conditions etc. Most of analyses are performed using robust APEX-based approach that enables fast, reliable, simultaneous and cost-effective detection of hundreds of disease related mutations and alterations in multiple genes.
Our portfolio comprises unique up-to-date tests for implementation to individuals from different populations all over the world. Elaboration and development of tests is carried out by our experienced scientific staff in collaboration with international outstanding scientists.
- Age-Related Macular Degeneration – AMD
- Autosomal Dominant Optic Atrophy – ADOA
- Autosomal Dominant Retinitis Pigmentosa – AD RP
- Autosomal Recessive Retinitis Pigmentosa – AR RP
- Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
- Congenital Stationary Night Blindness – CSNB
- Corneal Dystrophy
- Leber Congenital Amaurosis – LCA
- Leber Hereditary Optic Neuropathy – LHON NEW
- Stargardt Disease, Cone-Rod Dystrophy – ABCA4
- Usher Syndrome
- Vitelliform Macular Dystrophy – VMD
- X-Linked Retinitis Pigmentosa – XL-RP
|
