Leber Congenital Amaurosis – LCA
Leber Congenital Amaurosis (LCA) is an early-onset and severe retinal dystrophy which is responsible for congenital blindness. It is diagnosed by a severely reduced or absent electroretinogram (ERG) before age 1. Shortly after birth, patients usually present with poor fixation, nystagmus, photophobia, and amaurotic pupils. Later, in most patients, a large variety of retinal changes appear, including salt-and-pepper pigmentation, attenuated vessels, and atrophy of the retinal pigment epithelium (RPE). LCA is mostly inherited as an autosomal recessive disorder.
The LCA microarray test contains 641 disease-associated sequence variants identified in 13 LCA or early-onset retinitis pigmentosa genes: AIPL1, CRB1, CRX, GUCY2D, LRAT, TULP1, MERTK, CEP290, RDH12, RPGRIP1, LCA5, RPE65, and SPATA7. In addition to test multiple genes simultaneosly on a microarray, we are also offering sequence analysis of the entire coding region of the RPE65 gene.
Simultaneous screening of all known LCA-associated variants in large LCA cohorts allows for systematic detection and analysis of genetic variation, facilitating prospective diagnosis and ultimately predicting disease progression. Genetic testing also provides genetic counseling for the family with the possibility of prenatal diagnosis. 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).
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Leber Congenital Amaurosis – read more.
For further information:
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy
Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT.
Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5684-9.
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 Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis
Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Martinez Ciriano JP, de Faber JTHN, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, and Cremers FPM
Vis Sci. 2006; 47: 1167–1176) DOI: 10.1167/iovs.05-0848.
Genotyping microarray (disease chip) for leber congenital amaurosis: detection of modifier alleles
Zernant J, Kulm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R.
Invest Ophthalmol Vis Sci. 2005 Sep; 46(9): 3052-9.
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