Cytogenetics Services

Services

CYTOGENETICS

Test Code	Description 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

Test Code	Description of Services
20	Identification/Confirmation/Characterisation of Chromosomal Abnormalities by FISH The methodology of FISH is relatively new but is now widely used in our laboratory services. FISH analysis is rapid with high sensitivity and specificity. 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.
23	PGD-Preimplantation Genetic Diagnosis using FISH Preimplantation Genetic Diagnosis (PGD) is a test for genetic disorders performed on early-stage embryos prior to implantation. PGD is an adjunct test to In Vitro Fertilization (IVF).
24	M-FISH (Multi-colour FISH) Multi-colour FISH paints all 24 different human chromosomes in unique colour combinations to detect complex chromosomal rearrangements or confirm other chromosomal abnormalities found in conventional chromosomal analysis

MOLECULAR GENETICS-DNA ANALYSIS

Test Code	Description of Services
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 new families 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 Diagnosis aneuploidy screening with microarray-CGH Molecular karyotype. Detection of aneuploidies and large chromosomal rearrangements that are beyond the resolution of conventional chromosomal analysis.

TISSUE CULTURE, CELL LINE AND CRYOBANK

Test Code	Description of Services
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

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Cytogenetics Services