Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Analysis ID 94
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OMIM #609016
Clinical information Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is an autosomal recessive disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy. The disease appears in early childhood.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes HADHA
Analysis description Sequencing analysis of exon 14 of HADHA gene, including a common Polish mutation responsible for 95% of all identified mutations.
Analysis indication Symptoms for 3-hydroxyacyl-CoA dehydrogenase deficiency
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders