MOLECULAR STUDY LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY (SURF1 GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4307

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Leigh syndrome is a severe neurological disorder characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. Leigh syndrome can be caused by mutations in one of over 30 different genes. Most genes associated with Leigh syndrome are involved in the process of energy production in mitochondria. Disruption of complex IV, also called cytochrome c oxidase or COX, is the most common cause of Leigh syndrome. The most frequently mutated gene in COX-deficient Leigh syndrome is called SURF1.
Links:
OMIM Entry - # 256000 - LEIGH SYNDROME; LS
OMIM Entry - - 185620 - SURFEIT 1; SURF1

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