Muscular dystrophy, limb-girdle, type 1A
Analysis ID 208
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Muscular dystrophy, limb-girdle, type 1A
OMIM #159000
Clinical information Muscular dystrophy is the name given to a group of genetic conditions in which there is a progressive wasting and weakening of muscles. There are many different types of muscular dystrophies. Limb-girdle muscular dystrophies are characterized by weakness of the shoulder and pelvic girdle. Usually weakening of the legs is noticed earlier than of the arms. Additionally, the muscles of face are mostly unaffected.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes TTID (exon 2)
Analysis description Sequencing of the exon 2 of the TTID gene
Analysis indication Muscular limb-girdle dystrophy of adult onset
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders