LABORATORY ANALYSES
Analyses performed at the Center:
| Clinical chemistry techniques |
| Plasma and CSF metabolites determination (lactate, pyruvate, alanine) |
| Chromatographic techniques |
| Urinary organic acids analysis |
| Coenzyme Q content in muscle tissue |
| Biochemical techniques |
| Enzymatic activity of Pyruvate Dehydrogenase complex (PDHc) |
| Enzymatic activities of Krebs Cycle enzymes |
| Enzymatic activities of respiratory chain complexes |
| ATP production in cultured fibroblasts |
| Oxygen consumption in isolated mitochondria or in intact cells employing polarographic tecniques |
| Molecular biology techniques |
| MtDNA analysis: |
| MERRF (nt8344-8356 mutations) |
| MELAS (nt3243-3271 mutations) |
| NARP/MILS (ntT8993G-T8993C mutations) |
| LHON (nt3460-11778-14484-14459 mutations) |
| PEO (macrodeletions / multiple deletions) |
| PEARSON (macrodeletions) |
| In selected cases: |
| Search for rare mtDNA mutations employing RFLP and DHPLC techniques, and direct sequencing |
| Complete sequencing of mtDNA |
| Search for mtDNA depletions employing quantitative PCR |
| Nuclear DNA analysis: |
| SURF1 (Leigh Syndrome) |
| SCO1 (Infantile Encephalopathy) |
| SCO2 (Infantile Encephalocardiomyopathy) |
| COX10 (Infantile Encephalopathy) |
| COX15 (Cardiomyopathy) |
| ANT1 (Familiar PEO) |
| Twinkle (Familiar PEO) |
| POLG1 (Progressive external ophtalmoplegia, Alpes syndrome) |
| BCS1 (Infantile Encephalonephropathy) |
| TK2 (Mitochondrial DNA-depletion syndrome, myopathy) |
| DGUOK (Mitochondrial DNA-depletion syndrome, hepatocerebral form) |
| MPV17 (Mitochondrial DNA-depletion syndrome, hepatocerebral form) |
| TP (Mitochondrial neurogastrointestinal encephalopathy) |
| ETHE1 (Ethyl malonic encephalopathy) |
| ATP12 (Lactic acidosis with reduced mitochondrial ATPase activity) |
| OPA1 (Autosomal dominant optic atrophy) |
| OPA3 (Autosomal dominant optic atrophy) |
| GJB2 - connexin 26 (Neurosensorial deafness) |
| GJB6 - connexin 30 (Neurosensorial dehypomyelinating) |
| GJA12 - connexin 47 (Leukodystrophy PMLD) |
| Genes encoding for respiratory chain complexes subunits |
| E1a gene in Pyruvate Dehydrogenase complex deficiency |
| E1b gene in Pyruvate Dehydrogenase complex deficiency |
| PDX gene in Pyruvate Dehydrogenase complex deficiency |
For any information please call Mr Gianni Fabris at +39-02-23942618 or send an e-mail to neurogen.diagnostica@istituto-besta.it All services are intended for in and outpatients referred to the National Neurological Institute "C. Besta", for Local Assistance Units (ASL, Aziende Sanitarie Locali), and for all other public and private conventioned health assistance structures. Payments follow the price list of the Regione Lombardia, and services may be provided either on public or private health insurance grounds.
PCR - based mutation analysis