The Medical Genetics polyclinic and laboratory of Koç University Hospital is empowered by the latest technology and a highly experienced team, and provides holistic service regarding diagnosis, investigation, follow-up and consultation of rare genetic diseases. The services we provide can be broken down into the following categories:
Genetic consultation during the pre-conceptional and pregnancy periods:
Risk groups
- Couples with a history of consanguineous marriage
- Couples from ethnic groups with well-defined genetic risks (e.g.: Ashkenazi).
Adverse obstetric history
- Recurrent miscarriages (history of 2 or more miscarriages or stillborn fetuses)
- History of newborn or infant death due to unknown causes
- Congenital anomalies, history of infant death due to neurological or metabolic findings
Known family history of genetic diseases
- Diagnosed or suspected genetic disease in expecting parents or their relatives
- Known mutation carriage for genetic diseases (e.g.: beta-thalassemia, SMA) among expecting parents
- Chromosomal anomaly or translocation carriage among expecting parents or in family history
- Congenital anomaly (cleft lip, polydactyly, congenital cardiac anomaly), deafness, vision loss, mental deficiency etc. among expecting parents or relatives
- Hereditary cancer syndromes, metabolic disease, muscle disease or adult neurological diseases in family history
- Couples who do not have a risk factor, but would like to receive information on pre-conceptional or pregnancy-related genetic risks and investigations
Risk factors detected during the course of ongoing pregnancy
- Advanced age for the mother (35 or older) and father (45 or older)
- Pregnancies presenting increased risk in screening tests (1st trimester combined screening test, free fetal DNA screening test etc.)
- More than one minor indicator detected in ultrasound (hyperechogenic bowel, echogenic intracardiac focus etc.)
- Detection of fetal anomaly in ultrasound view of the womb (increased nuchal translucence, cardiac septal defects, cleft lips, polydactyly, anomalies of upper and lower extremities etc.)
Genetic screening tests and consultancy
- Molecular screening for pediatric autosomal and X-related recessive genetic diseases
Pediatric genetic diseases:
(cataract, cleft palate and/or lip, congenital cardiac diseases, diaphragmatic hernia, reproductive organ anomalies, skull deformations, contractures, anomalies including missing or extra digits or limbs, spina bifida, scoliosis etc.)
- Developmental problems (autism; learning difficulty; delayed acquisition of skills like head holding, sitting and walking; delayed speech; loss of developmental skills; muscular dystonia; seizures; mental deficiency etc.)
- Sensory deficits (high-grade refractive errors, hearing loss, retinal diseases, compromised vision etc.)
- Chronic diseases (metabolic diseases, bleeding disorders, low birth weight, delayed growth-development, diabetes, acromegaly, premature aging, cystic fibrosis etc.)
- Suspicion of a genetic syndrome (Down syndrome, Williams syndrome, Noonan syndrome, fragile-X syndrome, DiGeorge syndrome, Angelman syndrome, Prader-Willi syndrome etc.)
- Skeletal dysplasia (achondroplasia, osteogenesis imperfecta etc.)
- Pediatric cancers (retinoblastoma, Wilms’ tumor etc.) and rare dysmorphic syndromes where the risk of cancer is increased
- Hematologic diseases (Mediterranean anemia, sickle-cell anemia, Fanconi anemia, Diamond-Blackfan anemia, immunodeficiency/diseases of immune system, bleeding disorders like hemophilia, hereditary thrombocyte disorders)
- Diseases with dermal symptoms (multiple light brown spots, light-colored spots, lack or sporadic presence of eyelashes, hair and eyebrows, inability to perspire, epidermolysis bullosa, hypersensitivity to sunlight, nail and teeth anomalies)
Adult genetic diseases:
The majority of conditions identified among adult patients include connective tissue diseases such as type 1 neurofibromatosis, tuberous sclerosis, Marfan syndrome or Ehlers-Danlos syndrome as well as skeletal dysplasia, dysmorphic syndromes and impacts of chromosomal anomalies.
Cancer genetics:
Cancer genetics services are offered to individuals who may have been or have family members diagnosed with specific types of cancer. The most common types are breast, ovarian, colonic, pancreatic, uterine, gastric and some prostate and thyroid cancers.
Reproductive genetics:
Amenorrhea, premature menopause, idiopathic male and female infertility (infertility or low/no sperm count), recurrent miscarriages/stillborn deliveries, unexplained infant deaths, unsuccessful IVF treatment, pre-IVF evaluation, recurrent hydatid moles, sexual developmental deficits (androgen insensitivity syndrome, congenital adrenal hyperplasia etc.)
Neurogenetics:
Cerebral malformations (lissencephaly, polymicrogyria, microcephaly etc.), leukodystrophy (hereditary white matter diseases), epilepsy (seizures), early epileptic encephalopathy, spinal muscular atrophy, hereditary neuropathy (Charcot-Marie-Tooth disease), hereditary subgroups of cognitive disorders (like Alzheimer’s disease) mental deficiency, delayed speech and gait, autism spectrum disorders, movement disorders (hereditary ataxias, spastic paraplegia, Huntington’s disease)
Muscle disease genetics:
Duchenne/Becker muscle dystrophy, myotonic dystrophy, congenital muscle dystrophies and other congenital muscle diseases, congenital myopathies and congenital myasthenic syndromes
Cardiovascular genetics:
Familial hypercholesterolemia, hereditary arrythmias (long QT syndrome, Brugada, CPVT etc.), hypertrophic cardiomyopathy, idiopathic dilated cardiomyopathy, congenital valvular anomalies, rare genetic syndromes with cardiac anomalies (22q11.2 microdeletion syndrome, Noonan syndrome, Williams syndrome, Costello syndrome, Turner syndrome, CHARGE syndrome, Cantu syndrome, Naxos syndrome etc.), hereditary aortic and other large vessel diseases (Marfan syndrome, Loeys-Dietz syndrome, familial aortic aneurysm etc.), family history of sudden death.