News

Hemokromatozis

Hereditary hemochromatosis (HH) which is transmitted as an autosomal recessive trait, is a common disease related to iron metabolism. Hereditary...

Alpha-1-Antitrypsin Deficiency

AAT deficiency is one of the most common hereditary diseases. It reflects its symptoms with liver disease (elevated liver enzymes,...

Congenital Hearing Loss

A non-syndromic hearing loss (DFNB1) is a congenital and autosomal recessive disease. It can also be defined as a non-progressive...

Charcot-Marie-Tooth

Charcot-Marie-Tooth Nöropati Tip 1 (CMT1); distal kas zayıflığı ve atrofisi, sinir ileti hızında yavaşlama ile karakterize otozomal dominant bir demyelinizan...

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...

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...

"The most amazing thing about us is not just the protein-coding parts of our genomes but the vast regions of DNA that lie outside those parts."

James Watson