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.
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