Kayseri City Hospital Medical Genetics Unit was established to meet the needs of the society regarding genetic diseases, to provide patient service, to produce and conclude research that will contribute to scientific research. In the Medical genetics unit of our hospital, both outpatient and laboratory services are provided to the patients. Patients can benefit from genetic laboratory services and receive genetic counseling services by applying directly to the Medical genetics polyclinic .Our Medical Genetics Polyclinic, within the body of Kayseri City Hospital, where patients will apply, is located on the ground floor of the Physical Therapy and Rehabilitation Hospital building. Our laboratory, where test studies are actively carried out, is also on the -1 floor of the same building. located on the floor. Patients can receive laboratory analysis results from the Medical genetics polyclinic with their individual applications, accompanied by genetic counseling.
The services provided in the Medical Genetics Unit are carried out in 3 sub-units.
• Cytogenetics
• Molecular genetics
• Clinical Genetics
A) MEDICAL GENETICS POLYCLINIC
Who Can Apply to the Medical Genetics Polyclinic?
- Having a history of more than 2 miscarriages of unknown cause,
- Inability to have children (infertility),
- Advanced age pregnancies (>35 years old),
- Detection of high risk in biochemical screening tests during pregnancy,
- Detection of anomaly in the baby in USG performed during pregnancy,
- Chemicals, drugs, alcohol, etc. during pregnancy. exposure to teratogens,
- IVF failure,
- Having a family history of a known genetic disease (such as Cystic fibrosis, Familial Mediterranean Fever, Thalassemia),
- Consultation before consanguineous marriage,
- Having children with mental retardation and growth-development retardation,
- Those with congenital anomalies,
- Abnormal short stature - length, disproportionate body structure,
- Gender development disorders,
- Those with a personal or family history of breast, ovarian or uterine cancer in more than one individual,
- A history of cancer (breast or large intestine) that developed before the age of 40,
- Those who want to get information before and after genetic testing,
- Those who want to receive genetic counseling
B) GENETIC COUNSELING
.It is to provide information about the course of the disease and treatment methods, recurrence risks and solutions to people who have or are at risk of carrying a hereditary disease and their relatives. Information about the issue discussed is conveyed to the family accurately and completely, and possible solutions are offered. Genetic counseling is not directive, after all the information is explained in a way that the patient or family can understand, the decision is left to the individuals.
LABORATORY SERVICES (More than 100 different genetic tests in total)
A) CYTOGENETIC TESTS
These are the tests performed to diagnose pre- and postnatal chromosomal diseases or to detect chromosomal anomalies in hematological diseases.
Normally, our body cells have 46 chromosomes, 23 pairs. Sperm and egg have 23 chromosomes each, 22 of which are autosomes and one is the sex chromosome. Chromosomes are prepared for band analysis by various methods. When it is necessary to examine these chromosomes numerically and structurally cytogenetically, various tissue samples are required;
• Samples with Chromosome Analysis
o Peripheral Blood
o Fetal Blood (Baby cord blood)
o Amnion
o CVS (Chorionic Villus Biopsy)
o Evacuation Material (Low Material)
o Tissue, skin biopsy
The cytogenetic studies performed in our center are listed below. Please contact us about the tests not included in our list.
1. Chromosome analysis- C banding
2.Chromosome analysis- NOR banding
3.Chromosome analysis
PRENATAL DIAGNOSIS (PRENATAL GENETIC DIAGNOSIS)
Prenatal diagnosis is the examination at the chromosome or gene level in fetal samples before birth. If it is determined that the fetus is genetically ill, the pregnancy is terminated. For this reason, early prenatal diagnosis and if it is to be terminated, it is generally preferred to terminate the pregnancy as early as possible. With the method of chorionic villus biopsy (CVS), it is possible to perform genetic examination by taking samples from the side of the placenta facing the uterus, starting from the 10th week of pregnancy. It is possible to perform the same examination after the 16th week of pregnancy by taking a sample of the fluid in the fetus with the method called amniocentesis. If, for any reason, it is past the 20th week of pregnancy or if the studies performed in the previous samples are suspected, it is possible to conduct genetic analysis in fetal blood by taking the baby's cord blood (cordocentesis). CVS, amniocentesis or cordocentesis are performed by Gynecologists and Obstetricians. The examination of the samples taken is done in Genetic Diagnosis Centers.
Prenatal Diagnostic Indications
The increased risk of chromosomal anomaly due to advanced maternal age is the most common cause of prenatal genetic diagnosis. Prenatal diagnosis is recommended for cytogenetic examination in all pregnant women over the age of 35. However, if there is an increased risk in pregnancies at earlier ages, information should be given about prenatal diagnosis.
Prenatal diagnosis can be made for cytogenetic examination, if the results of the double test or triple test from the mother's serum show an increased risk.
If there is a chromosomal disorder in the previous birth, prenatal diagnosis is recommended in the new pregnancy. Chromosomal errors are detected in a significant portion of babies with congenital anomalies. Chromosome examination may be required in subsequent pregnancies to avoid the same situation.
Chromosome number or structure abnormalities in the mother or father. Sometimes cells with both normal and numerical chromosomal abnormalities can be seen in the same person. This condition is called mosaicism. Prenatal diagnosis is made to prevent diseases such as Turner syndrome and Klinefelter syndrome, as there may be number differences in the baby according to the mosaicism rate in mosaic cases, especially in terms of sex chromosomes (X and Y).
If the mother or father has a condition called translocation, which is characterized by exchange of parts between chromosomes, then prenatal diagnosis is required.
Chromosomal abnormalities are the cause of 50-60% of frequent miscarriages. Trisomies are responsible for half of them. The most common trisomies occur on chromosomes 13, 16, 18, 21. Cytogenetic or FISH examination can be performed for prenatal diagnosis.
In the prevention of Single Gene diseases, the application of molecular genetic methods in prenatal diagnosis is important. According to the heritability of the disease, the probability of transmission from a carrier mother or father is 25-50%. For the prenatal diagnosis of these diseases, which usually have severe consequences, the parents should be tested for carriers beforehand.
POSTNATAL DIAGNOSIS (POSTNATAL GENETIC DIAGNOSIS)
Samples that can be used for postnatal diagnosis are peripheral blood and tissue samples. Chromosomes obtained from these samples are evaluated numerically and structurally. Infants with dysmorphology who have a clinical diagnosis for a syndrome are examined for microdeletions or rearrangements, while adults are usually evaluated for infertility.
B) MOLECULAR GENETIC TESTS
These are the tests performed to diagnose single gene diseases that have an important place among hereditary diseases and especially the diseases that are common in our country.
SINGLE GENE DISEASES
With the mutation of a single gene, the function and structure of the encoded protein is disrupted, causing single gene diseases. Up to 2% of the population may be affected throughout their lifetime. Mendelian inheritance is essential, with distinct and specific pedigree. Its incidence increases in consanguineous marriages. Single gene diseases with known mutations such as ß-Thalassemia, Familial Mediterranean Fever-FMF (Familial Mediterranean Fever), Cystic Fibrosis can be defined by molecular genetic methods.
MULTIFACTORIAL DISEASES
There is not a single error in genetic information. It is formed by the interaction of small differences in genes and environmental factors or the person is predisposed. It is responsible for congenital anomalies (isolated neural tube defect, cleft lip and palate, cardiac anomalies…) and adult age group diseases (hypertension, diabetes, schizophrenia…). It affects 60% of the entire population. Consanguineous marriage increases the incidence.
By identifying polymorphisms on DNA, susceptibility for some diseases can be determined. Polymorphisms cause individuals to be affected differently by the same environmental factors and lead to different personal responses. Osteoporosis, cardiovascular diseases, predispositions to venous thrombosis, drug interactions can be done with polymorphism studies.
Molecular studies performed in our center are listed below. Please contact us about the tests not included in our list.
1. Y chromosome microdeletion mutations
2. Thrombophilia Panel Gene analysis (FV Leiden, Prothrombin, MTHFR, PAI)
3. Whole Exome sequencing
4. Clinical Exome sequencing
5. Lung Cancer Panel (S) FFPE / Liquid Biopsy
6.Solid Tumor Cancer Panel (S) FFPE / Liquid Biopsy
7.BRCA 1/2 Panel (S) FFPE
8.CDHS-12021Z-381 / Moody Panel / (G)
9.CDHS-12025Z-65 / CFTR / (G)
10.CDHS-12878Z-223 / Periodic Fever Panel / (G)
11.CDHS-14208Z-622 / Auto-Inflammatory Panel/ (G)
12.CDHS-13187Z-339 / Hyper Ige Syndrome Panel /(G)
13.CDHS-14213Z-1341 / Syndromic Autism Panel / (G)
14.CDHS-14528Z-1463 / Epilepsy Panel / (G)
15.CDHS-14530Z-2594 / Muscular Dystrophy Panel / (G)
16.CDHS-14613Z-58/ ATP7B Gene / (G)
17.CDHS-14624Z-2211 / CMT neuropathy Panel / (G)
18.CDHS-14633Z-533 / Panel on Polycystic Kidney Diseases / (G
19.CDHS-14640Z-199 - Neurofibromatosis Panel / (G)
20.CDHS-14801Z-476 / Hypotonia Panel / (G)
21.DHS-102Z-223 / BRCA1/2 / (G) Blood
22.DHS-102Z-223 / BRCA1/2 / (G) & (S) Blood / FFPE
23.HLA B27
24.HLA B51
25. Celiac Disease (HLA-DQ2, DQ8)
26. Adenomatous Polyposis Coli (APC gene) gene analysis
27. Friedreich Ataxia FXN Gene Repeat Count Analysis
28. Huntington's Disease CAG Triple Repetition Analysis
29. Myotonic Dystrophy (DMPK) Gene Repeat Analysis
30.MEFV Gene Analysis [FMF(Familial Mediterranean Fever) common mutations]
31.Jak2 Gene exon 12 Mutation Analysis
32. Beta Thalassemia (HBB) Gene Analysis
33. Thrombophilia Panel
34. Achondroplasia disease FGFR3 (Exon 7,10) Mutation Analysis
35.Azospermia - SYCP3 Gene Mutation Analysis (Exon 1, 2, 3, 4, 5, 6, 7, 8, 9)
36.GIST- PDGFRA ANALYSIS
37.GIST- PDGFRB ANALYSIS
38. Congenital Hearing Loss CONNEXIN (GJB2 35delG, 167delT) Gene Analysis
39.RETT syndrome MECP2 Gene Analysis (4 exons)
40. Verification Code (DNA sequence analysis 1-5 reactions)
41. Verification Code (DNA sequence analysis 1-10 reactions)
42. Verification Code (DNA sequence analysis 1-15 reactions)
43. Verification Code (DNA sequence analysis 1-20 reactions)
44. Verification Code (DNA sequence analysis 21 and above reactions)
45.BRCA1 Deletion/Duplication Analysis
46.BRCA2 Deletion/Duplication Analysis
47. Phenylketonuria (PAH) Deletion/Duplication Analysis
48. Cystic Fibrosis (CFTR) Deletion/Duplication Analysis
49. Duchen Muscular Dystrophy (DMD) Dystrophin Deletion/Duplication Analysis
50. Spinal Muscular Atrophy SMA1 Deletion/Duplication Analysis
51. Postnatal Molecular Karyotyping
52.FLT3 d835/ITD Mutation Analysis (TKD/ITD)
53.inv 16 (p13;q22) CBFB-MYH11 Fusion transcript
54.Jak2 Gene V617F Mutation Analysis
55.CALR (calreticulin) Gene Mutation Analysis
56. Thrombopoietin receptor MPL W515L/K Gene Analysis
57.Detection of type A mutation in NPM1 gene transcripts
58.Translocation- t(11;14)
59.Translocation- t(12;21) TEL-AML1
60.Translocation- t(14;18)
61.Translocation- t(15;17) PML-RARA bcr1
62.Translocation- t(15;17) PML-RARA bcr2
63.Translocation- t(15;17) PML-RARA bcr3
64.Translocation-t(1:19) TCF3(E2A)-PBX1
65.Translocation-t(4:11)
66.Translocation-t(8;21) AML1(RUNX1)-ETO(RUNX1T1)
67.Translocation-t(9;22) BCR-ABL mbcr p190
68.Translocation-t(9;22) BCR-ABL Mbcr p210
69.HLA A-B-C-DR-DQ High Resolution Test
04.01.2023