Kişisel DNA Haritası

Zihinsel Gerilik ve Zihinsel Engelliliğin Tespiti İçin Tüm Genom Sekanslaması

Zihinsel gerilik veya zihinsel engellilik, ömür boyu süren bir engeldir ve genellikle bebeklik veya erken çocukluk döneminde ortaya çıkarak ortalamanın altında bir zeka ile kendini gösterir.

Zihinsel gerilik, hafif zihinsel gerilik (50-70 IQ), orta derecede zihinsel gerilik (35-40 IQ), ağır zihinsel gerilik (20-34 IQ) ve çok ağır zihinsel gerilik (20 IQ'nun altında IQ) gibi derecelendirilebilir.

Zihinsel gerilik, yenidoğanların %0.5'inden daha azında görülür ve genetik nedenlerle yakından ilişkilidir. %15'i kromozomal anomaliler, %10'u mikrodelesyonlar ve %10'u erkeklerde monogenetik değişikliklerden kaynaklanır.

Tüm Genom Sekanslaması, neredeyse her türlü genetik varyasyonu bulma yeteneğine sahip en kapsamlı genetik testtir. Tüm genom sekanslamasının mutasyon tespiti avantajları birçok çalışmada gösterilmiştir. Tüm Genom Sekanslaması analizlerinin, pediatrik popülasyonlarda klinik olarak ilgili değişikliklerde otizmin %40'ını ve zihinsel geriliğin %60'ını tespit ettiği gözlemlenmiştir.

Kimler Test Edilmelidir?

Aşağıdaki özelliklere sahip kişiler test için uygundur:

• Zihinsel Engellilik
• Disformik özellikler
• Doğum kusurları
• Açıklanamayan nöbetler
• Yaşa bağlı gelişim yetersizliği veya gecikmesi
• Hipotoni
• Anormal büyüme
• Otizm Spektrum Bozukluğu

Kişiye özel DNA testi, vücut fonksiyonlarımızın kimyasal veritabanı olan DNA'nın analizidir. Genetik check-up ile genlerinizdeki genetik değişiklikler ve mutasyonlar hakkında bilgi edinmek mümkündür.

Kişiye özel DNA testi, hastalıkların teşhisi, tedavisi ve önlenmesi hakkında bilgi verirken, doktorunuz veya genetik danışmanınızla görüşmek genetik check-up'ın önemli bir adımıdır.

Genetik bir hastalık belirtiniz varsa, aile geçmişinizde genetik hastalıklar bulunuyorsa veya sizin için uygun ilaç ve dozaj hakkında bilgi edinmek istiyorsanız, hamileyseniz, yeni doğmuş bir bebeğiniz varsa veya çocuk sahibi olmak istiyorsanız, genetik check-up yaptırabilirsiniz.

Daha iyi ve sağlıklı bir yaşam planı için kişiye özel DNA raporunuzda kardiyovasküler hastalıklar, diyabet, yüksek tansiyon, obezite, metabolik sendrom, periferik metabolizma, laktoz emilim bozukluğu, lipid metabolizması genleri analiz edilir.

Personalized DNA test is the analysis of the chemical database of our body functions, DNA. It is possible to learn about genetic alterations and mutations in your genes through genetic check-up.

Although personalized DNA test gives information about the diagnosis, treatment, and prevention of diseases, consulting your doctor or genetic counselor is an important step of genetic check-up.

If you have symptoms of a genetic disease, family history, or you want to learn about the medication and dosage suitable for you, you are pregnant, have a newborn or want to have a child, you can get genetic check-up.

Cardiovascular diseases, diabetes, high blood pressure, obesity, metabolic syndrome, peripheral metabolism, lactose malabsorption, lipid metabolism genes are analyzed in your personalized DNA report for a better and healthier life plan.

The premium panel for females includes:

• Weight and Diabetes Panel
• Cardiovascular and Hypertension Panel
• Lipid Metabolism
• Lactose Malabsorption
• Osteoporosis
• Inflammation and Longevity
• Macular Degeneration
• Brain Aging
• Emotional Stability
• Skin Quality
• Gynecology and Breast Cancer Panel
• Detoxification

The World Health Organization has listed obesity as one of the top ten global health problems in Western cultures; some consider it the most dangerous disease in the world today.

Statistically, we now know that most Americans are technically considered overweight and that Western Europe and Japan are not far behind. Current estimates categorize 30% of US adults as obese; that is, at least 20% heavier than their ideal weight. This is nearly double the percentage of 20 years ago.

If we take in more calories than we burn, obesity can develop over time, and along with it come the associated medical problems of hypertension, type 2 diabetes mellitus, dyslipidemia (high triglycerides and low high-density lipoproteins) and atherosclerosis. This cluster of medical sequelae, collectively referred to as the metabolic syndrome or syndrome X, poses one of the most serious threats to public health that our society faces.

The Weight and Diabetes Panel includes:

• Weight and Diabetes
• Lipid Metabolism
• Cardiovascular and Hypertension Panel
• Lactose Malabsorption
• Osteoporosis
• Inflammation and Longevity
• Emotional Stability
• Detoxification

Just like your hair color or height, your aging also depends on your genes. However, it is difficult to identify the genes involved in aging since there are many variables to it. There are genes that protect you from its effects, genes that prevent the side effects of aging, or fight them. Although aging is different for each individual, over time it affects everybody.

It is also evident that the DNA and protein damage due to age is not irreversible until unless there is a stress response. Thus, the stress response is thought to be the reason for age-related weakness.

The genetic makeup of individuals plays an important role during systemic inflammation that initiates age-related diseases like Alzheimer’s or osteoporosis. Genetic variations located in the promoter regions of proinflammatory cytokines increase gene transcription. Therefore, the increased cytokine production plays a role in the susceptibility to age-related diseases. Whereas genetic variations concerning anti-inflammatory cytokines play a role in successful aging.

The Anti-Aging Panel for females includes:

• Weight and Diabetes Panel
• Lipid Metabolism
• Lactose Malabsorption
• Osteoporosis
• Macular Degeneration
• Skin Quality
• Gynecology and Breast Cancer Panel
• Inflammation and Longevity
• Drug Metabolism
• Detoxification
• Brain Aging
• Emotional Stability

Just like your hair color or height, your aging also depends on your genes. However, it is difficult to identify the genes involved in aging since there are many variables to it. There are genes that protect you from its effects, genes that prevent the side effects of aging, or fight them. Although aging is different for each individual, over time it affects everybody.

It is also evident that the DNA and protein damage due to age is not irreversible until unless there is a stress response. Thus, the stress response is thought to be the reason for age-related weakness.

The genetic makeup of individuals plays an important role in systemic inflammation that initiates age-related diseases like Alzheimer’s or osteoporosis. Genetic variations located in the promoter regions of proinflammatory cytokines increase gene transcription. Therefore, the increased cytokine production plays a role in the susceptibility to age-related diseases. Whereas genetic variations concerning anti-inflammatory cytokines play a role in successful aging.

The Anti-Aging Panel for males includes:

• Weight and Diabetes Panel
• Lipid Metabolism
• Lactose Malabsorption
• Osteoporosis
• Macular Degeneration
• Skin Quality
• Andrology and Prostate Cancer Panel
• Inflammation and Longevity
• Drug Metabolism
• Detoxification
• Brain Aging
• Emotional Stability

Cancer is a genetic disorder results from the genetic alterations of the genes that control cell growth. There are around 23.000 genes in a human genome. The alterations called single nucleotide polymorphisms in human DNA causes the genetic differences. Some alterations may cause disorders like cancer.

Early diagnosis and prevention may be possible through genetic oncology by informing the patient about the disease and how to live a better and healthier life.

The Oncology Panel for males include:

• Andrology and Prostate Cancer Panel
• Detoxification
• Inflammation and Longevity
• Drug Metabolism

Personalized DNA test is the analysis of the chemical database of our body functions, DNA. It is possible to learn about genetic alterations and mutations in your genes through genetic check-up.

Although personalized DNA test gives information about the diagnosis, treatment, and prevention of diseases, consulting your doctor or genetic counselor is an important step of the genetic check-up.

If you have symptoms of a genetic disease, family history, or you want to learn about the medication and dosage suitable for you, if you are pregnant, have a newborn, or want to have a child, you can get the genetic check-up.

Cardiovascular diseases, diabetes, high blood pressure, obesity, metabolic syndrome, peripheral metabolism, lactose malabsorption, lipid metabolism genes are analyzed in your personalized DNA report for a better and healthier life plan.

The Cardiac Metabolic Panel includes:

• Weight and Diabetes Panel
• Cardiovascular and Hypertension Panel
• Lipid Metabolism
• Lactose Malabsorption
• Osteoporosis

The quality of the skin is the most visible feature of an individual. The hydration, elasticity and antioxidant capacity of skin are key factors in the process of skin aging. The aging of skin depends on heritable factors as well as environmental factors. Recent studies on twins have shown that skin aging has a 60% dependence on genetic factors and a 40% on non-genetic.

The skin quality panel includes genes that have a role in the hydration of the skin epidermis, the lipid metabolism, elasticity, antioxidant capacity, wound healing, tumorigenesis and vitiligo.

Kanser Riski

• Chronic Lymphocytic Leukemia (CLL) Panel
• Breast Cancer (BRCA1, BRCA2)
• BRAF Gene (exon 11, 15) Scan
• Multiple Myeloma Panel
• Non-Hodgkin Lymphoma Panel
• AML1/ETO Fusion Transcript Analysis
• BCR/ABL Fusion Transcript Analysis
• CBFB-MYH11 inv (16) Fusion Transcript Analysis
• PML/RAR Fusion Transcript Analysis
• EGFR Gene Scan (exon 18, 19, 20, 21)
• JAK2 Gene Scan (exon 12, 14 & V617F mutation)

Autism

Autism may stem from environmental factors or multi-genetic factors. There were no genetic tests available to diagnose autism spectrum disorders until recently. Chromosomal Microarray test and Fragile X Syndrome tests associated with Autism Spectrum Disorder are available to manage autism.

Reproduction/In Vitro Fertilization Genetic Tests

• Preimplantation Genetic Diagnosis
• Single Gene Diseases
• Chromosome Aneuploidy/Translocation
• Maternal DNA Contamination

Tests for Blood Diseases

• Myelodysplastic Syndrome (MDS) Panel
• Hemochromatosis
• Thrombosis Panel (Factor Leiden V, Factor II, MTHFR Polymorphisms)
• Sickle Cell Anemia
• Factor V R2 and Factor XIII Polymorphism Tests
• TPMT Genotyping (1, 2, 3A, 3C alleles)

Drug Sensitivity Analysis

• CYP1A2 gene analysis (1A, 1F alleles)
• CYP2C19 gene analysis (2, 3, 4 alleles)
• CYP2C9 gene analysis (2, 3, 4, 5 alleles)
• CYP3A5 gene analysis (3 allele)
• UGT1A1 gene analysis (28 allele)
• VKORC1 gene analysis (-1639, 1173, 3730 bases)

Microbiological Tests

• Tuberculosis test
• CMV test
• HPV test
• HBV tests
• HCV tests

Male Infertility Tests

• Cystic Fibrosis (CFTR gene analysis)
• Y Chromosome DAZ (Yq) Microdeletions

Analysis of Chromosomal Anomalies

Tests for Hereditary Diseases

• Anemia Mediterranea
• Achondroplasia / Hypochondroplasia
• Angiotensin
• Ataxia Telangiectasia (Analysis of ATM Gene Connection)
• Charcot-Marie-Tooth (PMP22 duplication, Scanning of Mutations in MPZ, PMP22, GJB1 genes)
• Duchene-Becker Muscle Dystrophy
• Friedrich Ataxia
• Huntington Disease
• HNPP (PMP22 Deletion)
• Cystic Fibrosis
• Congenital Adrenal Hyperplasia
• K-RAS
• Myotonic Dystrophy
• Neurofibromatosis
• Spinal Muscular Dystrophy
• Spinocerebral Ataxia
• Thalassemia α
• Thalassemia β
• Prader Willi/Angelman Syndrome
• ApoE genotyping (E2, E3, E4 alleles)