Alport syndrome panel

Alport syndrome panel
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Alport syndrome panel is a molecular diagnostic test that screens for relevant mutations in COL4A3, COL4A4, and COL4A5 genes.

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Alport syndrome (AS) is a hereditary nephritis caused by defects in collagen type IV protein, which is responsible for basement membrane formation in the kidney, ear and eye. The disease affects approximately 1 in 50, 000 individuals .Initial clinical symptoms are proteinuria and hematuria which gradually progress to end-stage renal disease (ESRD). Extra-renal manifestations include sensorineural hearing loss and ocular abnormalities (anterior lenticonus).This Next Generation Sequencing (NGS) panel includes the sequencing of COL4A3, COL4A4, COL4A5 and COL4A6 .Approximately 80% of Alport syndrome cases are X-linked caused by mutations in the COL4A5 gene; the remaining cases are inherited in an autosomal recessive (15%) and autosomal dominant manner (5%) caused by mutations in either in COL4A3 or COL4A4. Heterozygous mutations in COL4A3 and COL4A4 can also cause benign familial hematuria (also called Thin-Basement Membrane Nephropathy) (van der Loop et al. 2000; Mochizuki et al. 1994; Nagel et al. 2005.

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