Preimplantation Genetic Implementations are procedures that provide genetic disorders’ testing before the embryo is transferred to uterus, in other words before pregnancy starts and an embryo which is fertilised in lab conditions is examined.
Embryos could be genetically tested before being transferred to the couples who have history of hereditary disease in their families and who want to have a baby with in vitro fertilisation (IVF). In Nesiller Genetik labs, Preimplantation Genetic Diagnosis (PGD) procedure can be applied to all diseases which have molecular diagnoses. All PGD implementations are performed with molecular methods at Nesiller Genetik Laboratories. That can also be applied to reciprocal translocation and Robertsonian translocation carriers.
Genetics is the cause of almost 10% of total infertility cases in couples.
Genetics in Male Infertility: The infertility cases usually consist (almost half of all the cases) of genetic related male infertility. Individuals who suffer from severe oligoasthenoteratospermia, obstructive azoospermia, nonobstructive azoospermia , oligoasthenoteratospermia and repetitive implantation failures carry risks in genetic aspects.
Y Chromosome Micro-Deletion: “azoospermia factor” in the long arm of Y chromosome or AZFa, AZFb and AZFc areas on “AZF” gene are related to male infertility.
Cystic Fibrosis Mutation: 1% to 2% of infertility in males is caused by congenital bilateral absence of the vas deferens (CBAVD). Genetic examination is applied to individuals who have cystic fibrosis or CBAVD diagnosed for cystic fibrosis transmembrane regulator (CFTR) gene mutations.
Genetics in Female Infertility: Genetic abnormalities in females can cause infertility by affecting reproduction cycle and/or hormone balance. These genetic findings include chromosomal irregularities and single-gene mutations. The most common cause of female infertility is chromosomal abnormalities and mutations in FMR1 gene in X chromosome which is responsible for Fragile X syndrome.
Peripheral blood and tissue samples are used for postnatal diagnosis. Chromosomes obtained from these samples are examined by numbers and structure. While micro-deletion or reorganizing examinations are held in babies who got clinical diagnosis for a syndrome or who got defects/faults dysmorphologically, in adults, these examinations are usually performed for infertility. Additionally, mutation scanning is also performed on these samples.
Prenatal diagnosis is examining the samples including genes or chromosomes belonging to foetus before birth. For prenatal diagnosis, samples belonging to foetus are obtained by invasive methods.
Chorionic villus biopsy (CVS) is one of these methods and in this method, sampling is made from intra uterine face of placenta in the 10th week of pregnancy for genetic examination.
Same examination could be made by another method called Amniocenteses (AS) in the 16th week of pregnancy. Amniocenteses (AS) is sampling from the liquid that contains the foetus.
It is possible to perform another examination called Cordocenteses (CS) after the 20th week of pregnancy or if there are doubts about earlier examinations. Cordocenteses is sampling from foetus’ cordon blood and making genetic examinations on foetal blood.
Non-invasive prenatal diagnosis (NIPD) is a method developed for scanning chromosomal abnormalities and single-gene diseases with extracellular foetal DNA. In this method, ‘sample belonging to foetus’ is obtained from maternal blood, not from placenta or amniotic fluid which requires an in-vasive procedure. In 2011, NIPD for chromosomal abnormalities was performed for the first time in USA, West Europe and China.
In NIPD, by obtaining foetus’ DNA by 10cc maternal blood, numeric and structural abnormalities in all chromosomes can be scanned in additon to detection of Trisomia 21 (Down Syndrome), Trisomia 18 (Edwards Syndrome) or Trisomia 13 (Patau Syndrome). In our laboratories, chromosomal abnormalities are examined with number of chromosomes that foetus have and in addition, Rh determination can be made starting from the 6th week of pregnancy.
Whole Genome NIPD for prenatal diagnosis of chromosomal abnormalities represents an advanced scanning instrument and enables detection of clinically important imbalances which can’t be determined by using conventional NIPD test. This scanning level presents a higher accuracy, an importantly higher sensitivity when compared to standard scanning and have a potential to enhance extensive pregnancy management. (Francesco Fiorentino*).
In paternity testing, we compare DNA areas which should be matching both in the child and in the father. If these areas match, father candidate is the biological father of the child but if they don’t, father candidate is not the biological father. In our laboratories, STR based paternity tests are performed based on biological samples (vinous blood, saliva, barba et al) from children and father candidates. For ethical reasons, this test is not performed on foetus (CVS, amniotic liquid, cord blood)
Cancer is a disease caused by uncontrolled divison and propagation to nearby/far tissues of cells with damaged or mutated DNA. These cells can’t execute apoptosis (planned death of cells) process because of DNA damage. The cells which divide and increase in number in an uncontrolled way become masses and form the tissue called tumor.
Cancer originates from DNA damage or mutation that is why it is considered as a genetic disease. But if these masses (formed of uncontrollably increasing cells) do not spread to other tissues or organs, the mass is called a benign tumor. But if it is spread into nearby tissues or into different area/s of the body, this is called malignant tumor; in other words cancer.
There are 2 main factors causing cancer; hereditary factors and environmental factors. A genetic change is a necessary component for cancer and these genetic changes usually caused by environmental factors. As it is mentioned in the web-site of Genomic Tumor Council, in limited number of cases (approximately 10%), cancer may be inherited from the mother or father.
Scannings, definitive diagnosis tests, tumor profiling tests, liquid biopsy, hereditary cancer tests are widely used to diagnose cancer.
Hematology is a field of medicine that examines conditions related to bone marrow, lymphatic system and blood. Hematology tests performed in our laboratories diagnose several diseases such as; anemia, leukemia, multiple mylema etc.
In our laboratory we have conventional as well as state of the art technology for molecular diagnosis of various hematological benign and malignant diseases. Thanks to this substructure, we provide various testing options and high-standard clinical and scientific guidance.
DNA sequencing, which means determination of sequencing of DNA building blocks (nucleotides) belonging to an individual’s genetic code helped genetics studies to advance and has become a technique that is used for testing genetic abnormalities.
To determine genetic variations, Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) methods are now more often used in areas of health and related researches. Both methods based on new technologies called New Generation Sequencing (NGS) that provides rapid sequencing of large amounts of DNA.
With the “Human Genome Project”, we now know that human genome is coded with 3 billions of DNA and composed of 20.000 – 25.000 genes that synthesize proteins. A more interactive relationship has been established between genetics and medicine.
We can help you improve your quality of life by using this interactive relation.To access more info about our services under the title of “Healthy Gene”, please visit www.saglikligen.com web site.
Phamacogenetics mean the interaction of medicine with one’s genetic structure. Pharmacogenetic tests provide genetic information about patient’s age, weight, existing conditions, current medication, general health and lifestyle. The results help doctors to choose “the best medication in suitable dose”.
In our laboratory, we perform several pharmacogenetic tests. We can help you in pharmacogenetics to detect the interaction of medication you use, it’s effect to your metabolism, the reaction of your genetic structure to this medication and we can develop a tailor-made treatment (suitable for your metabolism and genetic structure) for you in coordination with your doctor.
Molecular genetic analysis in cardiology helps detecting some characteristic changes related to cardiac defect types and sub-types. As an example, variations in MYH7 and MYBPC3 genes indicate to Hypertrophic Cardiomyopathy (HCM). Besides, molecular cardiology genetic practices are used in sports genetics, too.
Nesiller Genetik Diagnosis Center provides you healthy styles by using its wellness, nutrigenetics and genetics of sports tests. Nutrigenetics is a field of science that studies the genetic structure effecting nutriments’ metabolism and examines nutriments and genetic interactions by genotypes. Malnutrition (lack or excess of nutrition) directly affects gene expression and genome stability. Once somebody’s tendency to put on weight and sensitivity for weight-loss interventions is established, the results should be reviewed at molecular and metabolic levels.
In genetics of sports, tests applied to your physical activites can help determine the causes of injuries. Soft tissue injuries including tendons and ligaments are commonly seen in recreational and competitive athletes. Athletes have inherent risk for these acute injuries which include a genetic component and they get injured after exposure to external factors and traumatisation. For example, in several studies, genetic factors are proven to be related to risk of Achilles tendinopathy.
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