ALPORT SYNDROME - PANEL - NGS

New Test in NOÛS Catalog

Test Code: 7873

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	55 days
Information:
The Alport syndrome is characterised by having renal, cochlear and ocular involvement. The principal signal of this syndrome is microscopic hematuria (microhematuria). Males with the X-linked Alport syndrome (XLAS) suffer microhematuria from a very early age. Around 0% of females with XLAS also have it. There are two methods for the clinical diagnosis: sequencing and deletion/duplication analysis. The sequencing analysis of COL'A5 identifies nearly 80% of the mutations of individuals affected with familial history in X-linked inheritance. The deletion/duplication analysis of the COL'A5 gene identifies deletions (typically multiexonic) of nearly 10% of individuals affected with X-linked familial history. The inherited mutations detected in the COL'A3 and COL'A' genes (chromosome 2) are responsible for the less frequent recessive form of AS.

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