Wolfram Syndrome (WFS1, CISD2) sequencing, biological sample

New Test in NOÛS Catalog

Test Code: 7430

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	37 days
Information:
The Wolfram Syndrome (WS) is a rare neurodegenerative disease characterised by: type 1 mellitus diabetes, diabetes insipidus, optical atrophy, and neurological signs. The minimum criteria necessary for the determination of WS is the association of type 1 diabetes mellitus of juvenile onset, without antibodies, and that appears normally during the first decade of life, with the onset of bilateral optical atrophy, that appears after the second decade. The optical atrophy only affects the peripheral vision. Around 70-75% of the patients also develop diabetes insipidus and two-thirds of the affected individuals present sensorineural hearing loss of variable degree that affects the high frequencies. It is transmitted in an autosomal recessive manner. Two responsible genes have been identified: WFS1 gene ('p16.1) and the CISD2 gene. The mutations of CISD2 have only been identified in three consanguineous families of Jordanian origin. The mutations of WFS1 are responsible for most cases of WS (the majority of the mutations are localised in exon 8).

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