Laboratorio de análisis Dr. Echevarne

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Clinical Analisys - Molecular Genetic and Hereditary Diseases unit

Laboratorio de análisis Dr. Echevarne - Análisis Clínicos

ANALYTICAL TECHNIQUES • Genetic amplification by PCR: qualitative and quantitative • Real-Time PCR • MSP (specific PCR amplification of methylated DNA) • RFLP (Restriction Fragments Length Polymorphism) • SSCP (Single Stranded Conformation Polymorphism) • SNPs (Single Nucleotide Polymorphisms) • DNA Chips • DNA sequencing • Gene fragment cloning • Flow Cytometry • Cell culture: - Nucleic acid sequencing - Microsatellite instability studies - Nucleic acid Hybridisation:
	- Northern blot (RNA) - Southern blot (DNA)
FIELDS OF ACTION NEUROGENETIC, MONOGENIC AND HEREDITARY METABOLIC DISEASES • Primary degenerative dementia • Hereditary Polyneuropathies • Movement disorders • MitochonDrial Encephalopathies • Hereditary Mental Retardation synDromes • Hereditary Myopathies • Hereditary Hemochromatosis • Cystic Fibrosis or mucoviscidosis • Tay-Sachs Disease • Phenylketonuria • Homocysteine HUMAN ANEUPLOIDIES • Down’s SynDrome detection by QF-PCR • Chromosome 18 Trisomy by QF-PCR • Chromosome 13 Trisomy by QF-PCR • Human Aneuploidy detection in sex chromosomes by QF-PCR ASSESSMENT OF GENETIC RISK TO COMMON DISEASE • Vascular disease (cerebrovascular disease, cardiovascular disease, peripheral vascular disease) • Osteoporosis • Arterial Hypertension • Coronary heart disease • Chronic Obstruction Pulmonary Disease • Mellitum Diabetes • Celiac Disease HAEMATOLOGICAL DISEASES • Thrombophilias • Alfa and beta Thalassemias hemoglobinopaties ONCOLOGICAL DISEASES • Solid Tumours and Haematological Tumours • Study of Oncogenes, Tumour Supressor Genes and DNA Repair Genes, as prognostic, diagnostic and follow-up factors:
	- Quantification of gene expression - Mutation pattern studies - Determination of gene amplification - Study of inherited disorders - Minimal Residual Disease - Gene rearrangement identification
PHARMACOGENETICS STUDIES • Cytochromo P450 complex:
	- CYP2D6 - CYP2C19 - CYP3A5
• Acetylation:
	- NAT2
• Antidementia Drugs:
	- APOE
• Antihypertensive Drugs:
	- ACE
• Estrogen replacement therapy:
	- COMT
• Hyperhomocysteinemia:
	- MTFHR - CBS - MS
• Beta-ADrenergic receptor Snps
	- Arg16Gly: Respuesta a tratamiento antiasmático - Gln27Glu: Obesity
• Specific inhibitors of Tyrosine Kinases:
	- bcr/abl: Respuesta al Imatinib
FORENSIC GENETICS • Paternity Testing

	•	Biochemistry
	•	Haematology
	•	Inmunology
	•	Allergy
	•	Molecular Virology and Microbiology
	•	Molecular Genetics and Hereditary Diseases
	•	Hormones and Tumour Marker
	•	Cytogenetics
	•	Clinical Microbiology
	•	Toxicology
	•	Image Analysis

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