Genetic Testing & Disease Information
In Which Cases Are Chromosome Analysis Tests Necessary?
- For couples who cannot have children,
- For couples who have had stillbirths,
- For couples with recurrent miscarriages (2 or more),
- For individuals with growth retardation and intellectual disabilities,
- For individuals with multiple physical abnormalities or disabilities,
- For first-degree relatives diagnosed with chromosomal diseases or balanced translocation carriers,
- For pregnant women over 35, in collaboration with obstetricians for prenatal diagnosis,
- For pregnancies with a high risk of chromosomal diseases detected in screening tests or ultrasound, and for cancer patients.
With chromosome analysis and genetic evaluation, we can gain detailed information about the causes of diseases and possible treatment methods.
Descriptions of Genetic Tests (Prioritized)
What is BabySEQ?
NIPT is a non-invasive prenatal genetic screening test performed using maternal blood to assess the genetic status of the fetus.
Whole Exome Sequencing (WES)
Whole Exome Sequencing is one of the most comprehensive methods used for the diagnosis of genetic diseases.
Whole Genome Sequencing (WGS)
Whole Genome Sequencing (WGS) provides a broader genetic evaluation by analyzing the entire genome.
Familial Cancer Risk Assessment
Approximately 10% of all cancers are associated with hereditary cancer predisposition syndromes.
PregnaRisk PANEL 3
It may be recommended for all couples planning marriage or pregnancy to reduce the risk of genetic diseases and carrier status.
Tumor Mutational Burden (TMB) Panel
The TMB panel helps evaluate treatment approaches such as immunotherapy by measuring the mutational burden within the tumor.
Obesity and Diabetes – Genetic Risk Assessment Panel
Obesity and diabetes are among the most significant global health problems.
What is QF–Quantitative Fluorescent PCR (QF-PCR)?
QF-PCR is a technique that enables rapid diagnosis of chromosomes 13, 18, 21 and sex chromosome anomalies without the need for fetal cell culture.
Genetic Diseases (Prioritized) Descriptions
What is DMD (Duchenne Muscular Dystrophy)?
A muscle weakness disease usually seen in male children of carrier mothers, first symptoms appear at ages 3-5 and progress to wheelchair dependence by ages 12-13 if untreated.
What is Celiac Disease?
In people with gluten sensitivity, gluten causes intestinal damage and leads to the formation of antibodies against certain tissues.
What is Cystic Fibrosis?
Cystic Fibrosis is a serious disease that causes lung, pancreatic, and infertility problems, carried by 1 in every 35 people in the population.
What is Spinal Muscular Atrophy (SMA)?
SMA, one of the more common rare diseases, is a genetic disorder with three different severity levels.
What is Fragile X?
It is one of the triplet repeat disorders and the second most common cause of intellectual disability after Down syndrome.
MEFV Gene: MEFV Innate Immunity Regulator - Pyrin
The MEFV gene provides instructions for making a protein called pyrin.