The Cyprus Institute of Neurology and Genetics (Dept of Biochemical Genetics)

GENERAL INFORMATION

Name of infrastructure: The Cyprus Institute of Neurology and Genetics (Dept of Biochemical Genetics)

Hosting Entity

Cyprus Institute of Neurology and Genetics

Scientific Domain: Biological/Biomedical Engineering and Biotechnology/Nanotechnology Research Facilities

Description and purpose of the Research Infrastructure

Mission: The mission of the Biochemical Genetics department is to provide diagnostic testing and result interpretation of the highest quality and be of service to patients and families with inherited metabolic disorders in Cyprus and neighbouring countries. Objective: Biochemical Genetics department was established in 1990 with the goal of becoming the reference centre in Cyprus for the laboratory investigation of inherited metabolic disorders (IMD) or inborn errors of metabolism (IEM). IMD is a group of more than 1500 disorders, and although individually are rare, it is estimated that cumulatively they affect about one in every 500 newborns. Prompt diagnosis is crucial for the treatment and management of these disorders. The Biochemical Genetics department offers a wide spectrum of specialized biochemical tests for the laboratory investigation and monitoring of IMD. The most up-to-date technology is used including HPLC, GC/MS and LC-MS/MS. Moreover, the Biochemical Genetics department implementates several research projects, mainly focused on the epidemiology of IMD metabolic disorders in Cyprus and their characterization at the biochemical and molecular level.

USEFUL FIGURES

7

Personnel

28%

Male

72%

Female

43

Publications

ACCESS TO INFRASTRUCTURE

Academia
Industry

CONTACT INFO

Postal Code: 2371

City: Nicosia

Website: https://www.cing.ac.cy/en/about-us/biomedical-sciences-/bg

INFORMATION OF INSTRUMENTATION OPERATING IN THE INFRASTRUCTURE

Ultra performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) system

Name: Ultra performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) system
Description: The Waters ACQUITY TQ Detector is an advanced bench top tandem quadrupole mass detector designed for ultra performance LC/MS/MS applications. The system includes an ESI+ ionization option and the IntelliStart™ technology, for automated system optimization and status monitoring. This system is ideally suited for a wide range of qualitative and quantitative applications.
Units: 1
Hosting Laboratory / Department: Biochemical Genetics Department

Brief description of the utilization of the instrument:

It is used for the quantitavice determination of acylcarnitines, C26:0-lysoPC and methylmalonic acid in plasma samples.

Year: 2011

Available for access
by external users

Gas chromatography / Mass spectrometry (GC/MS) system

Name: Gas chromatography / Mass spectrometry (GC/MS) system
Description: Agilent 6890N Network Gas Chromatograph compined with the 7683B Automatic Liquid Sampler (ALS) system and the 5973 inert Mass Selective Detector (MSD). The features of MSD include:independently heated electron-ionization ion source, independently heated hyperbolic quadrupole mass filter, high-energy dynode (HED) electron multiplier detector and independently heated GC/MSD interface.
Units: 1
Hosting Laboratory / Department: Biochemical Genetics Department

Brief description of the utilization of the instrument:

This system is used for the analysis of urine organic acids.

Year: 2005

Funding Source:

Available for access
by external users

HPLC system with column housing, column selector and UV detector

Name: HPLC system with column housing, column selector and UV detector
Description: Used for in-vitro diagnostic testing to analyze many compounds, including diagnostic indicators and therapeutically monitored compounds. The Separations Module is an integrated solvent and sample management platform.
Units: 1
Hosting Laboratory / Department: Biochemical Genetics Department

Brief description of the utilization of the instrument:

It is used for vitamine A and E quantification.

Year: 1993

Funding Source:

Available for access
by external users

Immunoassay analyzer (chemiluminescent microparticle immunoassay -CMIA technology)

Name: Immunoassay analyzer (chemiluminescent microparticle immunoassay -CMIA technology)
Description: Used to identify and detect the concentration of specific substances in blood samples. It can perform a variety of tests.
Units: 1
Hosting Laboratory / Department: Biochemical Genetics Department

Brief description of the utilization of the instrument:

It is used for the quantitative determination of homocysteine, B12, folate levels in blood

Year: 0000

Funding Source:

Available for access
by external users

Amino Acids analyzer

Name: Amino Acids analyzer
Description: ARACUS system, for the separation, identification, and quantification of amino acids in biological samples (plasma, cerebrospinal fluid, urine). Its operation is based on the principle of post column derivatization of amino acids with ninhydrin and uses maintenance free LED photometers.
Units: 1
Hosting Laboratory / Department: Biochemical Genetics Department

Brief description of the utilization of the instrument:

Analytical instrument used for the separation, identification, and quantification of amino acids from biological samples (plasma, cerebrospinal fluid, urine).

Year: 2017

Funding Source:

Available for access
by external users

Synergy H1 microplate reader

Name: Synergy H1 microplate reader
Description: A multimode microplate reader, with monochromator-based and filter-based optics. The Hybrid Technology offers flexibility and sensitivity across a broad range of applications. The filter detection modes: a) Fluorescence Intensity, b) Fluorescence Polarization (BRET) d) Luminescence, e) Time Resolved Fluorescence (TR-FRET) and f) UV-Vis Absorbance. Monochromator Detection Modes: a) UV-Vis Absorbance and b) Fluorescence Intensity (variable bandwidth). It has dual syringe injectors, shaking and temperature control modules.
Units: 1
Hosting Laboratory / Department: Biochemical Genetics Department

Brief description of the utilization of the instrument:

Offers flexibility and sensitivity across a broad range of applications such as protein quantification, cell prolifferation, enzyme activity and luciferase reporter assays.

Year: 2015

Funding Source:

Available for access
by external users

UV/Vis spectrophotometer

Name: UV/Vis spectrophotometer
Description: It has a double-beam with sample and reference cuvette positions and a precise Temperature Control. The working wavelength is ranging from 190 –1100 nm. It can perform high-speed kinetics measurements.
Units: 2
Hosting Laboratory / Department: Biochemical Genetics Department

Brief description of the utilization of the instrument:

Measures the amount of discrete wavelengths of UV or visible light that are absorbed by or transmitted through a sample in comparison to a reference or blank sample.

Year: 1996

Funding Source:

Available for access
by external users

SpeedVac concentrator

Name: SpeedVac concentrator
Description: This system uses state-of-the-art centrifugation, vacuum and heat technologies for removing solvents and concentrating samples while maintaining sample integrity.
Units: 1
Hosting Laboratory / Department: Biochemical Genetics Department

Brief description of the utilization of the instrument:

Concentrating samples

Year: 0000

Funding Source:

Available for access
by external users

Sonicator

Name: Sonicator
Description: Device that employs ultrasonic waves to homogenize samples, particularly cells/subcellular structures or tissues in suspension.
Units: 1
Hosting Laboratory / Department: Biochemical Genetics Department

Brief description of the utilization of the instrument:

Ηomogenization of samples

Year: 0000

Funding Source:

Available for access
by external users