Cytogenetics and Genomics Department
List of Services
1 Chromosomal analysis of CVS (Chorionic Villi Sample)
Prenatal diagnosis of CVS for the detection of chromosomal anomalies e.g. Down syndrome, other syndromes/diseases which involve chromosomal anomalies.
2 Chromosomal analysis of Amniotic Fluid
Prenatal diagnosis of amniotic fluid for the detection of chromosomal anomalies, e.g. Down syndrome, other syndromes/diseases that involve chromosomal anomalies.
3 Chromosomal analysis of Fetal Blood
Prenatal diagnosis of fetal blood for the detection of chromosomal anomalies e.g. Down syndrome, other syndromes/diseases which involve chromosomal anomalies.
4 Chromosomal analysis of Peripheral Blood
Postnatal diagnosis of peripheral blood for the diagnosis of several syndromes/diseases, which involve chromosomal anomalies.
5 Chromosomal analysis of Skin Biopsy
Chromosomal analysis from skin biopsies for the diagnosis of several syndromes/diseases, which involve chromosomal anomalies.
6 Examination for chromosomal analysis of Products of Conception (POC) and aborted fetuses
Macroscopic and chromosomal analysis of POC and aborted fetuses to investigate chromosomal anomalies as the cause of a miscarriage and to offer genetic counseling.
7 Tissue culture only
Tissue culture for establishment of a cell line in order to facilitate other tests e.g. biochemical.
8 Chromosomal analysis of Peripheral Blood for couples
Chromosomal analysis of peripheral blood for the diagnosis of several syndromes/diseases, which involve chromosomal anomalies.
MOLECULAR CYTOGENETICS – FISH
20 Identification/Confirmation/Characterisation of Chromosomal Abnormalities by FISH
FISH assays identify, confirm and characterize chromosomal abnormalities such as aneuploidies, marker chromosomes and complex chromosomal aberrations in prenatal and postnatal chromosomal analyses.
21 Diagnosis of the following diseases/syndromes by FISH
The following diseases/syndromes are caused mainly by microdeletions, which cannot be detected by classical cytogenetic techniques. FISH constitutes a powerful high-resolution technique, which constitutes an ideal tool for the reliable diagnosis of the following conditions/syndromes:
A. Prader - Willi / Angelman (D15S10)
B. Prader - Willi / Angelman (SNPRN)
C. Smith – Magenis
D. Williams
E. X - Linked Ichthyosis
F. Retinoblastoma
G. Miller – Dieker
H. Di-George, VCFS
H. Wolf – Hirchhorn
J. Cri - Du – Chat
K. Kallmann
22 Multiprobe detection (centromeric/telomeric)
Multiprobe subtelomeric FISH allows detection of submicroscopic rearrangements such as deletions, duplications, and translocations in the subtelomeric region of the chromosomes.
Multiprobe centromeric FISH is used to identify the origin of supernumerary marker chromosomes (SMCs) and also to confirm other chromosomal abnormalities found in conventional chromosomal analysis.
26 DNA Sperm Fragmentation (Semen)
Investigation of the Fragmented DNA level in sperm cells.
27 Sperm Oxidative Stress (OS) (Semen)
Investigation of the oxidative stress level in semen.
MOLECULAR GENETICS-DNA ANALYSIS
60 Prenatal Diagnosis of Fragile X Syndrome
Molecular diagnostic test for the detection of trinucleotide expansions in the FMR1 gene, which causes Fragile X Syndrome. This test is performed on CVS, amniotic fluid and fetal blood.
61 Postnatal Diagnosis of Fragile X Syndrome/per Individual
Molecular diagnostic test for the detection of trinucleotide expansions in the FMR1 gene, which causes Fragile X Syndrome. This test is performed on peripheral blood.
62 Investigation of abnormalities/syndromes with MLPA or RT PCR/PCR
Investigation of genetic mutations found in isolated families.
63 DNA Isolation
DNA is isolated from blood samples, amniotic fluid and various types of tissue to be used for molecular genetic testing or for storage in the departments DNA bank.
64 Detection of Y chromosomal material/per Individual
Molecular diagnostic test for the detection of Y chromosomal material in patients with Turner Syndrome.
65 Molecular investigation of infertility (Y-chromosome microdeletion detection)
Molecular diagnostic test for the detection of Y microdeletions in Azoospermia Factor Region (AZF)
66 Achondroplasia Mutations G1138A and G1138C analysis
Molecular diagnostic test for the detection of the two most common mutations in FGFR3 gene that cause achondroplasia
67 Central Diabetes Insipidus (CDI)
Molecular diagnostic test for the detection of G-1773-A mutation in the AVP-NPII gene that causes CDI.
68 Prader-Willi Syndrome/Angelman Syndrome (MS-MLPA)
Molecular diagnostic test for the detection of microdeletions/microduplications in PW/AG region and also detection of the methylation status of the region.
69 Rapid Prenatal diagnosis of 13, 18, 21, X and Y aneuploidies (QF-PCR)
Molecular diagnostic test for the rapid detection of Down Syndrome and of the other viable trisomies.
70 Detection of genomic imbalances with high-resolution 1Mb microarray-CGH
Molecular karyotype. Detection of submicroscopic copy number changes that are beyond the resolution of conventional chromosomal analysis.
71 Pre-implantation Genetic Testing with array CGH or NGS
Detection of aneuploidies and large chromosomal rearrangements on trophectoderm cell biopsies from day 5 embryos using array-CGH molecular karyotyping or New Generation Sequencing methodologies.
NEXT GENERATION SEQUENCING – (NGS)
110 Targeted Panel up to 50 genes
A. Rett/Angelman‐like panel
New Generation Sequencing in targeted regions related to Rett/Angelman Syndrome.
111 Clinical Exome Sequencing (Single patient analysis)
New Generation Sequencing in a large number of targeted regions related to genetic disorders.
112. Clinical Exome Sequencing (Trio analysis)
New Generation Sequencing in a large number of targeted regions related to genetic disorders. Affected individual and parents are analyzed in parallel.
113 In Silico Panel from Clinical Exome Sequencing (Single patient analysis)
A. Brain Malformation panel
B. Syndromic Autism panel
114 In Silico Panel from Clinical Exome Sequencing (Trio analysis)
A. Brain Malformation panel
B. Syndromic Autism panel
115 Whole Exome Sequencing (Single patient analysis)
New Generation Sequencing in the whole exome of the genome.
116 Whole Exome Sequencing (Trio analysis)
New Generation Sequencing in the whole exome of the genome.
117 Open up the CES data after in silico panel
118 Open up the WES data after in silico panel
119 Sanger DNA sequencing for confirmation of variant detected by NGS/patient
TISSUE CULTURE, CELL LINE AND CRYOBANK
80 Establish Lymphoblastoid Cell Line
Develop a lymphoblastoid cell line using EBV (Epstein-Barr Virus) from peripheral blood and store it in the liquid nitrogen facility.
81 Establish Fibroblast Cell Line
Develop a fibroblast cell line from skin or other tissue and store it in the liquid nitrogen facility.
82 Thawing-Freezing-Expansion up to two T-25 flasks
Reactivate after thawing a cell line and expand it further.
83 Maintain two vials/sample in the liquid nitrogen facility for one year
The lymphoblastoid, fibroblast or other cell lines are cryopreserved in the liquid nitrogen facilities for future use
