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  • DnaBook
  • Most Frequent Diseases
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  • Chromosomal Disorders
  • Single Gene Disorders
  • Mitochondrial Diseases
  • Multifactorial Diseases
  • Fetal DNA
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Down Syndrome

Down syndrome(DS) is the most commonly observed chromosomal abnormality and occurrence frequency is one out of every 600-700 births. Since it has its own unique...

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Osteoprosis

Studies have revealed some polymorphisms related to reduction in bone mineral density (BMD) and fracture risk. Today, Collagen Type 1, vitamin D, estrogen and calcitonin...

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Sialidosis (Mucolipidosis Type I)

Sialidosis (Neuraminidase-Mucolipidosis Type I ) is a lysosomal storage disease caused by insufficient neuraminidase enzyme. Patients are clinically categorized as Type...

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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...

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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...

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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 sensorineural hearing loss ranging from...

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Alpha-1-Antitrypsin Deficiency

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

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Hemokromatozis

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

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Achondroplasia

Achondroplasia and Hypochondroplasia which are the most common reasons of hereditary dwarfism , caused by mutations in FGFR3 gene. The disease is characterized by short...

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Rett Syndrome

Rett Syndrome is an X-linked autosomal disease and clinical signs vary according to the gender. The disease may follow a classic or atypical course in girls and patients...

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Frajil X Sendrome

Fragile X syndrome is the most common form of inherited mental retardation. Incidence frequency is 1/1200 in males and 1/2500 in females. It has been localized at Xq27.3...

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Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy (SMA) is clinically characterized by progressive muscle weakness depending upon the degeneration in the anterior horn cells of spinal cord and...

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DMD / BMD Muscular Diseases

Duchenne / Becker Muscular Dystrophy (DMD / BMD) which is characterized by progressive muscle weakness and atrophy, caused by mutations in the dystrophin gene....

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Cystic Fibrosis

Cystic fibrosis is an autosomal recessive disease which is characterized by observed elevation in the sweat chloride concentration via evidences in the lungs and...

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Alpha Thalassemia

Alpha thalassemia has clinically 2 significant forms. These are Bart hydrops fotalis hemoglobin (Hb Bart) syndrome and hemoglobin H (HBH) disease. Hb Bart syndrome is...

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Sickle Cell Anemia

Sickle Cell Anemia is a kind of typical blood disease showing autosomal recessive character and it can be characterized by chronic anemia and periodic pain attacks. The...

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Beta thalassemia (Mediterranean anemia)

Beta thalassemia is a very common type of blood disease seen in Turkey as well as other mediterranean countries. Although carrier frequency for this disease may rise up...

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Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) which is an autosomal recessive inherited disease and characterized by short term repetitive severe abdominal pain with high fever...

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Terrace Fulya Center, Teşvikiye, Hakkı Yeten Cd. No:13 Kat M4, 34365 Şişli / İstanbul / Türkiye
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info@genetiks.com.tr

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  • About Us
  • Contact
  • Legal notices
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  • Preimplantation Genetic Diagnosis
  • Non-Invasive Prenatal Testing (NIPT)
  • Clinical Genetics
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  • Pharmacogenetics
  • Sport Genetics
  • Molecular Genetics
  • Cytogenetics
  • Molecular Cytogenetics
  • Most Frequent Diseases
  • Genetic Counselling
  • Chromosomal Disorders
  • Single Gene Disorders
  • Mitochondrial Diseases
  • Multifactorial Diseases
  • Fetal DNA
  • Sports Performance Tests
  • Health Links
  • Our Vision & Mission
  • Quality Policy
  • Administrative Structure
  • News
  • Media
  • Licences
  • Certificates
  • Micro Websites
  • Tests
  • Online Report
  • Contact

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