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Molecular Biological Diagnostics

Molecular Biological Diagnostics

Our Neurogenetic Laboratory gives the opportunity for the molecular genetic diagnosis of the most common genetically determined central and peripherial neurological disorders. Genetic risk factors are tested in cerebrovascular diseases that involve big populations.

Tests:

Stroke risk factors

(Leiden mutation, CADASIL mutation, MTHFR mutation testing, thrombocyte glycoprotein receptor polymorfisms)

Trinucleotide repeat diseases

Huntington disease

Spinocerebellar ataxia profile (SCA1, SCA2, SCA3, SCA6, SCA7, FXTAs)

Parkinson disease (Synuclein and Parkin gene mutation analysis)

Dystonia (DYT1 gene deletion testing)

Cognitive impairment, dementia, atherosclerosis risk factors: APOE genotyping

Migraine risk factors (mtDNS A3243G mutation, MTHFR , CADASIL mutation testing )

Diagnosis of mitochondrial disorders

  • mtDNS deletion testing
  • MELAS (A3241G), NARP (T8993G, T8993C), MERRF (A8344G) mutation analysis
  • LHON (Leber optic neuropathy) analysis of primary mutations
  • Mitochondrial tRNS sequencing
  • ANT1(adenin nucleotide transzferase) sequence analysis
  • Whole mtDNS sequencing upon request after pre-arrangement

Other metabolic diseases ( MCAD, CPT-II defitiency)

Genetic testing of neuromuscular disorders

  • Muscle dystrophies
  • Duchenne/Becker type muscle dystrophy – dystrophin Western blot and deletion testing
  • Limb-girdle muscle dystrophies: Western blot analysis of pathogenic proteins
  • Congenital muslcedystrophy: desmin, merosin, collagen VI Western blot
  • Emery-Dreifuss syndrome: emerin, lamin A/C Western blot
  • Myoglobinuria profiel: CPT-II deficiency

Genetic testing of hereditary neuropathies

  • Charcot Marie Tooth – I: PMP22 duplication, EGR2, MPZ analysis
  • Charcot Marie Tooth – II.: Mitofusin, MPZ, Connexin32 mutation analys
  • Dejerine Sottas Neuropathy: EGR2, MPZ analysis

Congenital hypomyelinisation: EGR2, MPZ, Connexin32 gene analysis

  • Hereditary neuropathy pressure palsy (HNPP): PMP22 deletion analysis
  • Multiplex tunnel syndromes: PMP22 deletion analysis
  • Autosomal dominantly inherited hereditary neuropathy profile: PMP22 duplication/deletion, EGR2, MPZ mutation analysis
  • X chromosome linked hereditary neuropathy: Connexin32 mutation analysis

Examintaion of neurobiopsy samples:

Evaluation and examination of muscle, nerve or skin biopsy samples is often needed for the correct diagnosis of rare neurological diseases. Our Hystology laboratory provides the widest pallette of examinations in the country. Frozen blocks, and resin embedded blocks are made from the samples for light- and electromicroscopic evaluations. The examinations are indicated in the following cases:

Indications for muscle biopsy: inflammatory or hereditary muscle diseases, motoneuron diseases, metabolic or multisystemic diseases (eg. mitochondrial, lysosomal diseases).

Indications for nerve biopsy:aquired or hereditary neuropathies, metabolic disorders (eg. amyloidosis, metachromatic leukodystrophy), immunológical disorders (eg. vasculitis).

Indications for skin biopsy: immunological disorders (eg. vasculitis), metabolic disorders (eg. Krabbe disease, neuronal ceroid lipofuscinosis), angiopathia (CADASIL).

Methods:

Routine staining: haematoxylin eosin, PAS, Gömöri trichrom, Sudan Black

Histochemical staining: NADH-TR, ATP-ase, acidic phosphatase, SDH, COX, phosphorylase, MADA

Immunhistochemical evaluation: dystrophin, utrophin, 4 types of sarcoglycan, merosin, collagen VI, desmin, caveolin, myotilin, emerin, lamin A/C, SERCA, glycosylated and non- glycosylated alpha dystroglycan, LAMP2, CD4, CD8, CD68, MHC-I)

Services in Cell biology:

Our Center is able to culture and biobank primary fibroblasts upon prior request.

Biobank service:

Our center can provide the storage of databanks, DNA, RNA, muscle and nerve samples.