Koç University Department of Medical Genetics was established by Prof. Hülya Kayserili, M.D., in 2015 and has been operating under her leadership since then. Experienced particularly in diagnosis and follow-up of hereditary diseases, our team contributes to advancement of genetics with scientific research while striving to provide reliable information on medical genetics to patients, their families, colleagues and the public. Our department is part of a broad international network in diagnosis, treatment and follow-up of genetic diseases.

As an umbrella for clinical genetics, molecular genetics and developmental biology, we adopt a multidisciplinary research methodology. As it is outlined in our vision, we aspire to serve as an academic center that attracts genetic and genomic research determining the basis for future medical practices and innovations. Our specialists keep close track of all advancements in the field of medical genetics and work toward the goal of making novel applications available to patients as soon as possible. Extensive research and work are being undertaken at our Medical Genetics Diagnostic Center, where our primary focus is on cancer genetics, genetic consultation during pre-conceptional and gestational periods and pediatric genetic disorders. 


Applications of Medical Genetics



Cancer genetics

The patient audience for cancer genetics consists of individuals whose first-degree family members or relatives have been diagnosed with specific types of cancer. Breast, ovarian, colonic, pancreatic, uterine, gastric cancers and some cancers of prostate and thyroid gland are among the notable types. Genetic risk of predisposition to cancer goes up quite a bit particularly in case of specific cancer types (ovarian, pancreatic, male breast cancer, pheochromocytoma, neuroendocrine tumors) in the presence of  the following factors: Specific cancer features (triple-negative breast cancer, high-grade or metastatic prostate cancer), diagnosis at a young age (breast and colon cancer below the age of 50) and multiple or bilateral (breast, kidney etc.) cancers in patients themselves or their family members. Another risk group involves patients whose family members on one parental side have been diagnosed with types of cancer associated with each other, such as breast/ovarian, colon/uterus, sarcoma/leukemia/intracranial tumor.

Our physicians take the anamnesis of patients, review their investigation results and look into their detailed family history during a genetic consultation session, which lasts 30-45 minutes. Afterwards, genetic investigations suitable for the patient are determined, and interpretation of possible results are shared with them in detail. This allows the patient to make an informed decision on having genetic tests performed. Genetic investigations make it possible to find out genetic predisposition to cancer within a family, review treatment and protective surgery options, and employ screening programs for a chance of early diagnosis among family members at risk. Genetic test results are later evaluated together with the patient in a second consultation session, where individuals are informed further on follow-up, precautions and tests aimed at diagnosing other family members at risk.  


Genetic consultation in the pre-conceptional and gestational period

Our prenatal genetics team offers genetic consultancy services and plans genetic screening and diagnostic tests for couples who present during pregnancy or the pre-conceptional period. Expecting parents are inquired about the family histories and the ongoing course of pregnancy during the genetic consultancy session, which lasts 30-45. This is followed with a risk evaluation and determination of appropriate genetic screening and/or diagnostic investigations in accordance with familial risks. Tests and risks are explained to the couple in detail. Pregnancies where an fetal anomaly has been detected are admitted to the perinatology council and evaluated in a holistic manner. Test results are shared in a second session of genetic consultation, allowing the couple to make an informed decision about pregnancy. A suitable follow-up schedule is drafted by our physicians in line with their decision. 


Pediatric genetic diseases


Pediatric genetic diseases is a broad category that includes various conditions such as:
  • Congenital anomalies 
  • Chronic diseases
  • Chronic deficits
  • Mental deficiency
  • Growth-developmental delay

A child who has been affected by genetic disease may have either inherited the condition from one or both of the parents or be manifesting the genetic disorder for the first time. These cases are usually referred to for planning of genetic investigations after they have been clinically assessed at other departments and found to be suspicious for genetic conditions. The initial clinical evaluation may last up to 1 and a half hour and consists of inquiring personal and familial medical history, review of available medical records and a detailed physical examination. Results of genetic tests are conveyed to family members by our genetics advisors. Follow-up, additional investigations and consultations at other departments are planned on the basis of the diagnosis, and family members may be presented with various options aimed at mitigating risk in future pregnancies. 


Muscle diseases council

Weekly neurology-medical genetics council meetings are being held for the first time in Turkey under the umbrella of the Muscle Diseases Center of Koç University Hospital in order to draft patient-specific diagnostic algorithms. 


Perinatology-medical genetics meetings

Pregnancies where multiple or major fetal structural anomalies have been identified are evaluated at perinatology-medical genetics councils. Decisions on genetic investigations and follow-up are discussed at this council.


Multidisciplinary tumor councils

Our specialists discuss genetic test results of patients, as the case may require, at hematology, breast, gyneco-oncology, colorectal and other tumor council meetings to devise comprehensive treatment options. 


Molecular diagnosis of facioscapulohumeral dystrophy

Our department stands out as the only center in Turkey where molecular diagnosis of facioscapulohumeral dystrophy can be made. Used for this purpose, the Molecular Combing System was integrated to our laboratory in 2019. 


Immunomagnetic cell separation

The immunomagnetic separation method is utilized in cases of multiple myeloma and practiced alongside up-to-date applications like CD138 sorting.

 

Zebrafish models

In order to investigate pathophysiological mechanisms underlying rare congenital diseases, evaluate the genotype-phenotype relation and determine possible therapeutic objectives, we plan to launch preclinical studies on the zebrafish model soon.

FREQUENTLY ASKED QUESTIONS

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:

  • Congenital anomalies

(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.

Primary Services of Medical Genetics


Pediatric genetic diseases
  • Syndromology: Diagnosis and follow-up of rare genetic diseases with congenital malformations
  • Dysmorphology: Diagnosis, follow-up and genetic consultation for genetic diseases with facial anomalies
  • Genetic diagnosis of extremity anomalies (hands, feet and limbs) 
  • Genetic evaluation, diagnosis and follow-up of short stature and growth-developmental delays
  • Genetic diagnosis and consultation for neurologic diseases with cognitive deficiency, autism and epilepsy
  • Genetic consultation and diagnosis of hereditary cardiac diseases (arrythmia, cardiomyopathy etc.)
  • Diagnosis of adult and pediatric genetic diseases with dermal symptoms
 
Genetic diagnosis and consultation during pre-conceptional and pregnancy periods
  • Genetic consultation and screening in consanguineous marriages
  • Genetic consultation and diagnosis in cases of infertility and recurrent miscarriages
  • Genetic consultation and follow-up in pregnancies that are considered high-risk for genetic diseases
  • Prenatal genetic diagnosis, pregnancies with structural anomalies, perinatology councils
  • Fetal and neonatal postmortem physical examination and genetic diagnosis

Genetic diagnosis and consultancy services for special diagnostic groups
  • Cancer genetics (genetic consultation and investigations in hereditary cancers)
  • Neurological diseases of adult age
  • Pediatric and adult muscle diseases

 

Laboratory services available at the Genetic Diseases Diagnostic Center


Cytogenetic and molecular cytogenetic diagnostic methods (karyotyping/chromosome analysis and FISH) can be performed on the following types of specimen:
  • Blood, abortus material, tissues and tissue cultures like skin
  • Cordocentesis, amniocentesis and chorionic villus biopsy (CVS) for prenatal diagnoses
  • Bone marrow tissue and culture (cancer cytogenetics)

Molecular genetic diagnostic methods
  • SNP array analysis (300K)
  • Classical molecular diagnosis: Deletion/duplication analysis with Sanger sequencing, MLPA and q-PCR
  • Methylation analyses, triplet repeat fragmentation analyses
  • Next-gen sequencing panels, clinical exome analysis
  • Whole-exome (WES) and whole-genome (WGS) analysis (in international collaboration)

 

Functional studies within the scope of research

  • At RNA and protein level

  • At model organism level

Clinical genetics

Clinical patient services are provided by three specialized physicians at the examination room located within the pediatric polyclinic and the genetic consultation room in the obstetrics polyclinic. Our team is highly experienced in diagnosis, prenatal diagnosis and follow-up of rare genetic syndromes with cognitive deficiency and congenital deformations. Patients and/or their family members are informed in detail about benefits of individual and family-specific genetic tests in cases of cancer and risky pregnancy. Results are duly conveyed to patients and family members so as to raise awareness about existing genetic risks, if any. 

 

Genetics laboratory

Comprehensive genetic tests are performed at our laboratory for the purpose of diagnosis prenatal and postnatal genetic diseases. The diagnostic laboratory of Genetic Diseases Diagnostic Center has been accredited for compliance to testing quality standards, and is equipped with all necessary technological facilities. The laboratory has its own divisions for conventional cytogenetics, molecular cytogenetics and molecular genetics. Each unit is led by a clinical laboratory supervisor with over 10 years of experience in their own fields. The result reporting interval is the same as large-scale university reference centers around Europe. 

 

Cytogenetics and molecular cytogenetics:Cytogenetics and molecular cytogenetics divisions are configured as separate spaces allocated to cell culture, cytogenetic analysis and in situ fluorescence procedures. Cytogenetic and molecular cytogenetic analyses can be performed on blood and various tissues/tissue cultures. They can also be carried out on cordocentesis, amniocentesis and chorionic villus biopsy (CVS) specimens for prenatal diagnosis. Up-to-date testing processes are conducted at the laboratory for cancer genetics. 
 

Molecular genetics:The molecular genetics division of the laboratory has DNA isolation, PCR and post-PCR rooms. In addition to essential basic infrastructure and equipment, the division includes NGS-based (next-gen sequencing) multi-output and micro-sequencing analysis platforms (Illumina MiSeq next-gen sequencing and Illumina Iscan micro-sequencing devices). The molecular genetics laboratory routinely conducts classical diagnostic test methods like Sanger sequencing, MLPA and q-PCR for deletion/duplication analyses as well as methylation analyses, triplet repeat fragmentation analysis for evaluation of dynamic mutation diseases and next-gen sequencing panels aimed at evaluating cancer predisposition, hereditary cardiac diseases and Mendelian hereditary diseases. 

 
Our department stands out as the only center in Turkey where molecular diagnosis of facioscapulohumeral dystrophy can be made. Used for this purpose, the Molecular Combing System was integrated to our laboratory in 2019.  


Bio-informatics

Bio-informatic stages of high-output sequencing and micro-sequencing analyses are carried out at our department. Variants are reviewed together with a bio-informatics expert and clinical genetics specialist, if necessary, which boosts diagnostic accuracy. Studies undertaken within this framework involve compilation of folders from raw data, arrangement and preparation for analysis. Genetic data obtained in this manner is thus utilized for diagnosis of recessive and X-specific inherited disease carriage and research of new genes associated with the disease.