Preimplantasyon Genetik Tanı (PGT)

genetik tanı
genetik tanı

Genetik Tanı Preimplantasyon (PGD)

Preimplantasyon Genetik Tanı ; Son iki yılda gelişen teknikler birçok yeni kalıtsal hastalığın tanısını mümkün kılmıştır. İnsan genom haritasının çıkartılması sonrasında Genetik bilimi hızla yeni ufuklara doğru gitmektedir.

İnsanoğlu’nda 46 kromozom ve 90 bin gen tespit edilmiştir. Kisttik fibrozis denilen hastalıkta ki bu hastalık Batı Avrupa kökenli bireylerde yaygındır 500 kadar değişik mutasyon ile olabilmektedir. Tekrarlayan düşük yaşayan çiftlerin genetik hastalıklar açısından taranması önemlidir. Preimplantasyon Genetik Tanı ; Genetik hastalıkların hangilerinin çiftler tarafından taşındığının bilinmesi, oluşan embriyolar üzerinde de bu hastalıkların taranması şansını bize vermektedir. 1400 kadar genetik hastalık oluşturan bozukluk pahalı olmakla beraber taranabilir.

Preimplantasyon Genetik Tanı ;

    • Aşağıda listesi verilen hastalıklar sadece bir kez kan vererek ya da tükürük örneği üzerinden taranabilir.17-Alpha-Hydroxylase Deficiency
      17-Beta-Hydroxysteroid Dehydrogenase Type III Deficiency
      21-Hydroxylase-Deficient Congenital Classical Adrenal Hyperplasia
      21-Hydroxylase-Deficient Congenital Nonclassical Adrenal Hyperplasia
      3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
      3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCC1 Related
      3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCC2 Related
      3-Methylglutaconic Aciduria: Type 3
      6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
      AbetalipoproteinemiaAchromatopsia: CNGB3 Related
      Acrodermatitis Enteropathica
      Acyl-CoA Oxidase I Deficiency
      Adenosine Deaminase Deficiency
      Adrenoleukodystrophy: X-Linked
      Alkaptonuria
      Alpha-1-Antitrypsin Deficiency
      Alpha-Mannosidosis
      Alpha Thalassemia
      Alport Syndrome: COL4A3 Related
      Alport Syndrome: COL4A4 Related
      Alport Syndrome: X-linked
      Amegakaryocytic Thrombocytopenia
      Andermann Syndrome
      Androgen Insensitivity Syndrome: Complete
      Argininosuccinate Lyase Deficiency

      Aromatase Deficiency

      ARSACS
      Arts Syndrome
      Aspartylglycosaminuria
      Ataxia-Telangiectasia
      Ataxia with Vitamin E Deficiency
      Autosomal Recessive Polycystic Kidney Disease
      Bardet-Biedl Syndrome: BBS10 Related
      Bardet-Biedl Syndrome: BBS12 Related
      Bardet-Biedl Syndrome: BBS1 Related
      Bardet-Biedl Syndrome: BBS2 Related
      Bare Lymphocyte Syndrome: Type II
      Bartter Syndrome: Type 4A
      Beta-Hexosaminidase Pseudodeficiency
      Beta-Ketothiolase Deficiency
      Beta Thalassemia
      Biotinidase Deficiency
      Bloom Syndrome
      Canavan Disease
      Carnitine Palmitoyltransferase IA Deficiency
      Carnitine Palmitoyltransferase II Deficiency
      Cartilage-Hair Hypoplasia
      Cerebrotendinous Xanthomatosis

    • Charcot-Marie-Tooth Disease with Deafness: X-Linked: GJB1 Related

      Charcot-Marie-Tooth Disease with Deafness: X-Linked: PRPS1 Related
      Cholesteryl Ester Storage Disease
      Choreoacanthocytosis
      Choroideremia
      Chronic Granulomatous Disease: X-Linked
      Citrullinemia: Type I
      Classical Galactosemia
      Congenital Disorder of Glycosylation: Type 1A: PMM2 Related
      Congenital Disorder of Glycosylation: Type 1B: MPI Related
      Congenital Disorder of Glycosylation: Type 1C: ALG6 Related
      Congenital Lipoid Adrenal Hyperplasia
      Congenital Neutropenia: Recessive
      Corneal Dystrophy and Perceptive Deafness
      Corticosterone Methyloxidase Deficiency
      Creatine Transporter Defect
      Crigler-Najjar Syndrome
      Cystic Fibrosis
      Cystinosis
      D-Bifunctional Protein Deficiency
      Diabetes: Recessive Permanent Neonatal
      Dihydropyrimidine Dehydrogenase Deficiency
      Du Pan Syndrome
      Dystrophic Epidermolysis Bullosa: Recessive
      Ehlers-Danlos Syndrome: Type VIIC
      Ellis-van Creveld Syndrome
      Emery-Dreifuss Myopathy: X-Linked
      Enhanced S-Cone
      Ethylmalonic Aciduria
      Fabry’s Disease
      Factor IX Deficiency
      Factor VIII Deficiency
      Familial Dysautonomia
      Familial Hyperinsulinism: Type 1: ABCC8 Related
      Familial Hyperinsulinism: Type 2: KCNJ11 Related
      Familial Mediterranean Fever
      Familial Mediterranean Fever: Mild Form
      Fanconi Anemia: Type C
      Fragile X Syndrome
      Fumarase Deficiency

      Galactokinase Deficiency

      Gaucher Disease
      Gitelman Syndrome
      Globoid Cell Leukodystrophy
      Glucose-6-Phosphate Dehydrogenase Deficiency
      Glutaric Acidemia: Type I
      Glycine Encephalopathy: AMT Related
      Glycine Encephalopathy: GLDC Related
      Glycogen Storage Disease: Type IA
      Glycogen Storage Disease: Type IB
      Glycogen Storage Disease: Type II
      Glycogen Storage Disease: Type III
      Glycogen Storage Disease: Type IV
      Glycogen Storage Disease: Type V
      Glycogen Storage Disease: Type VII
      GM1-Gangliosidoses
      GRACILE Syndrome
      Guanidinoacetate Methyltransferase Deficiency
      Hemochromatosis: Type 1: HFE Related
      Hemochromatosis: Type 2A: HFE2 Related

  • Hemochromatosis: Type 3: TFR2 Related
    Hemoglobinopathy: Hb C
    Hemoglobinopathy: Hb D
    Hemoglobinopathy: Hb E
    Hemoglobinopathy: Hb O
    Hereditary Fructose Intolerance
    Herlitz Junctional Epidermolysis Bullosa: LAMA3 Related
    Herlitz Junctional Epidermolysis Bullosa: LAMB3 Related
    Herlitz Junctional Epidermolysis Bullosa: LAMC2 Related
    Hermansky-Pudlak Syndrome
    HMG-CoA Lyase Deficiency
    Holocarboxylase Synthetase Deficiency
    Homocystinuria Caused by CBS Deficiency
    Hunter Syndrome
    Hurler Syndrome
    Hypohidrotic Ectodermal Dysplasia: X-Linked
    Hypophosphatasia
    Inclusion Body Myopathy: Type 2
    Isovaleric Acidemia
    Joubert Syndrome
    Juvenile Retinoschisis: X-Linked
    Laryngoonychocutaneous Syndrome
    Leber Amaurosis
    Leigh Syndrome: French-Canadian
    Limb-Girdle Muscular Dystrophy: Type 2D
    Limb-Girdle Muscular Dystrophy: Type 2E
    Limb-Girdle Muscular Dystrophy: Type 2I
    Lipoprotein Lipase Deficiency

    Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

    Luteinizing Hormone Resistance (Leydig Cell Hypoplasia)
    Maple Syrup Urine Disease: Type 1A
    Maple Syrup Urine Disease: Type 1B
    Maple Syrup Urine Disease: Type 3
    Medium Chain Acyl-CoA Dehydrogenase Deficiency
    Metachromatic Leukodystrophy
    Methylmalonic Acidemia: MMAA Related
    Methylmalonic Acidemia: MMAB Related
    Methylmalonic Acidemia: MUT Related
    Methylmalonic Aciduria and Homocystinuria: Type cblC
    MTHFR Deficiency: Severe
    Mucolipidosis: Type II
    Mucolipidosis: Type IV
    Muscle-Eye-Brain Disease
    Myotubular Myopathy: X-Linked
    Nemaline Myopathy: NEB Related
    Nephrotic Syndrome: Type 1
    Nephrotic Syndrome: Type 2
    Neuronal Ceroid-Lipofuscinosis: CLN3 Related
    Neuronal Ceroid-Lipofuscinosis: CLN5 Related
    Neuronal Ceroid-Lipofuscinosis: CLN6 Related
    Neuronal Ceroid-Lipofuscinosis: CLN8 Related
    Neuronal Ceroid-Lipofuscinosis: MFSD8 Related
    Neuronal Ceroid-Lipofuscinosis: PPT1 Related
    Neuronal Ceroid-Lipofuscinosis: TPP1 Related
    Niemann-Pick Disease: Type A

    Niemann-Pick Disease: Type B

    Niemann-Pick Disease: Type C1
    Niemann-Pick Disease: Type C2
    Nijmegen Breakage Syndrome
    Nonsyndromic Hearing Loss and Deafness: DFNB1 Related
    Ornithine Transcarbamylase Deficiency
    Ornithine Translocase Deficiency
    Pendred Syndrome
    Persistent Mullerian Duct Syndrome
    Persistent Mullerian Duct Syndrome: Type II
    Phenylalanine Hydroxylase Deficiency
    Polyglandular Autoimmune Syndrome: Type I
    Primary Hyperoxaluria III
    Primary Hyperoxaluria: Type 1
    Primary Hyperoxaluria: Type 2
    Progressive Familial Intrahepatic Cholestasis: Type 2
    Propionic Acidemia: PCCA Related
    Propionic Acidemia: PCCB Related
    Pseudocholinesterase Deficiency
    Pycnodysostosis
    Pyruvate Dehydrogenase Deficiency: Autosomal Recessive
    Pyruvate Dehydrogenase Deficiency: X-Linked
    Retinitis Pigmentosa: Autosomal Recessive: DHDDS Related
    Rhizomelic Chondrodysplasia Punctata: Type I
    Salla Disease
    Sandhoff Disease
    SCID: X-Linked
    Short Chain Acyl-CoA Dehydrogenase Deficiency
    Sickle-Cell Anemia
    Sjogren-Larsson Syndrome
    Smith-Lemli-Opitz Syndrome
    Spinal Muscular Atrophy: SMN1 Linked
    Stuve-Wiedemann Syndrome

    Sulfate Transporter-Related Osteochondrodysplasia
    Tay-Sachs Disease

    Tyrosine Hydroxylase Deficiency
    Tyrosinemia: Type I
    Usher Syndrome: Type 1C
    Usher Syndrome: Type 1D
    Usher Syndrome: Type 2A
    Usher Syndrome: Type 3A
    Usher Syndrome: Type IB
    Usher Syndrome: Type IF
    Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
    Walker-Warburg Syndrome
    Wilson Disease
    Wolman Disease
    Zellweger Spectrum Disorders: PEX10 Related
    Zellweger Spectrum Disorders: PEX1 Related

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