Preimplantasyon Genetik Tanı (PGT)

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