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Charcot-Marie-Tooth
Charcot-Marie-Tooth Neuropathy Type 1 (CMT1) is an autosomal dominant demyelinating peripheral neuropathy characterized by distal muscle weakness and atrophy, along…
Smith-Lemli-Opitz (SLOS)
Smith-Lemli-Opitz Syndrome (SLOS) is a cholesterol metabolic disorder caused by deficiency of 7-dehydrocholesterol (7-DHC) reductase enzyme. Patients show prenatal and…
Sialidosis (Mucolipidosis Type I)
Sialidosis (Neuraminidase-Mucolipidosis Type I ) is a lysosomal storage disease caused by insufficient neuraminidase enzyme. Patients are clinically categorized as…
Osteoprosis
Studies have revealed some polymorphisms related to reduction in bone mineral density (BMD) and fracture risk. Today, Collagen Type 1,…
Down Syndrome
Down syndrome(DS) is the most commonly observed chromosomal abnormality and occurrence frequency is one out of every 600-700 births. Since…
NIPT24™
During pregnancy, application of screening tests known as 1st trimester screening test, double test, and triple test should be performed…
Preimplantation Genetic Diagnosis
Current developments in genetics enable geneticists to perform genetic tests on the embryo by means of in vitro fertilization (IVF)…
Pharmacogenetics
Genetic differences in genetic structures are influential on the goodness or side effects of drugs as they are discarded from…
Oncology
Hematology Nowadays, the importance of genetic tests in hematological disorders such as leukemia and lymphoma is very clear and doubtless….
Molecular Genetics
Genetic diseases arise from permanent changes in individual’s gene structure. Genetic changes may be transmitted with different ratios to next…