1. Genetic Counseling Clinic
v The Genetic Counseling Clinic offers information and guidance to patients and families who have birth defects or genetic conditions. The clinic can also help patients and families who may be at risk for conditions that can be passed down in families (inherited conditions) and etc… other counseling included:
· Genetic counseling for infertility and recurrent miscarriage
· Counseling before marriage and before pregnancy
· Counseling on gender ambiguity
· Advice on pre-implantation genetic testing
2. Cytogenetic Laboratory
v The Cytogenetics Laboratory provides comprehensive testing services including:
Ø Chromosome analysis (Karyotyping) for prenatal samples and peripheral blood
Karyotyping is the process by which cytogeneticists take photographs of chromosomes in order to determine the chromosome complement of an individual, including the number of chromosomes and any abnormalies.
The term is also used for the complete set of chromosomes in a species or in an individual organism and for a test that detects this complement or measures the number.
Karyotypes describe the chromosome count of an organism and what these chromosomes look like under a light microscope. Attention is paid to their length, the position of the centromeres, banding pattern, any differences between the sex chromosomes, and any other physical characteristics. The preparation and study of karyotypes is part of cytogenetics.
Ø FISH (fluorescence in situ hybridization) assays for congenital (pre/postnatal) disorders
Fluorescence in situ hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only those parts of a nucleic acid sequence with a high degree of sequence complementarity. It was developed by biomedical researchers in the early 1980s to detect and localize the presence or absence of specific DNA sequences on chromosomes. Fluorescence microscopy can be used to find out where the fluorescent probe is bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific RNA targets (mRNA, lncRNA and miRNA) in cells, circulating tumor cells, and tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues.
Ø Pre-implantation genetic diagnosis (PGD) is the genetic profiling of embryos prior to implantation and sometimes even of oocytes prior to fertilization. PGD is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective abortion, as the method makes it highly likely that the baby will be free of the disease under consideration. PGD thus is an adjunct to assisted reproductive technology, and requires in vitro fertilization (IVF) to obtain oocytes or embryos for evaluation. Embryos are generally obtained through blastomere or blastocyst biopsy.
3. Molecular genetic Laboratory
The Molecular Genetics Diagnostic Laboratory provides DNA and RNA-based molecular testing services for a wide variety of indications, including inherited genetic disorders.
Ø AZF Microdeletion Test
Microdeletion of the long arm of the Y chromosome is frequently correlated with the failure of spermatogenesis. Each region of the Y chromosome microdeletion is known as an azoospermia factor (AZF), including factors a, b, and c. ... SRY, sex-determining region of the Y chromosome.
Ø Coagulating Factors panel testing
Thrombophilia has been suggested as one putative etiology of RPL (2). Hereditary thrombophilia is a genetic disorder of blood coagulation resulting in an unusual hypercoagulation state, which in turn can result in abnormal implantation and may manifest as spontaneous loss (3). Numerous polymorphisms are associated with coagulation disorders, such as polymorphisms in factor V Leiden, factor II G20210A, or methylene tetrahydrofolate reductase (4). Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk for venousthromboembolism (VTE). Deep venous thrombosis (DVT) is the most common form of venous thromboembolism (5). Heterozygosity for factor V Leiden is inherited as an autosomal dominant trait. A specific G-to-A point mutation at nucleotide 1691 in the factor V gene, which leads to the single amino-acid replacement Arg506Gln, causes resistance to cleavage and inactivation by activated protein C and increased susceptibility to clotting (6, 7). Activated protein C (APC) is a natural anticoagulant protein that cleaves and inactivates active forms of factors V and VIII, thereby down-regulating more clot formation (8, 9).