Kearns-Sayre syndrome (KSS)
Analysis ID 224
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Kearns-Sayre syndrome (KSS)
OMIM #530000
Clinical information Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It results from mutations in mitochondrial DNA. KSS is characterized by a progressive limitation of eye movements, and abnormal accumulation of pigmented material in the eye membrane. Additional symptoms include skeletal muscle hypotonia, cardiac conduction defects, short stature, hearing loss, ataxia, impaired cognitive function, and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes mtDNA
Analysis description Analysis consists of identification of deletions and duplication in the mtDNA with use of MLPA method
Analysis indication Symptoms of Kearns-Sayre syndrome
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics