GENETIC SCREENING TEST(PGD)

HISTORY OF GENETIC SCREENING TEST (PGD)

When we look at the history of Genetic Screening Test (PGD), over the past 2 years, developing techniques have enabled us to recognise various permanent illnesses. After the creation of the Human Genetic Map, general knowledge is rapidly developing. It has been discovered that humans have 45 chromosomes and 90 000 genes.

The illness cystic fibrosis is widespread over Western Europe and can consist of 500 various mutations. Couple that have recurring miscarriages are often tested for Cystic Fibrosis. We reveal which partner carries these illnesses via embryos that have been formed and have had a biopsy performed on them. Couples can have this expensive screening which finds isolates the specific mutations of up to 1400 genetic conditions.

Genetic Screening Test (PGD)

Genetic Screening Test (PGD)

CYTOGENETICS

The list below shows illnesses / condıtıons that can be found wıth one blood and monthly saliva tests.

  • 17-Alpha-Hydroxylase Deficiency
  • 17-Beta-Hydroxysteroid Dehydrogenase Type III Deficiency
  • 21-Hydroxylase-Deficient Congenital Classical Adrenal Hyperplasia
  • 21-Hydroxylase-Deficient Congenital Non-classical 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
  • Abetalipoproteinemia
  • Achromatopsia: CNGB3 Related
  • AcrodermatitisEnteropathica
  • 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
  • ArgininosuccinateLyase Deficiency
  • Aromatase Deficiency
  • ARSACS
  • Arts Syndrome
  • Aspartylglycosaminuria
  • Ataxia-Telangiectasia
  • Ataxia with Vitamin E Deficiency
  • Autosomal Recessive Polycystic KİDNEY DİSEASE
  • 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-HexosaminidasePseudodeficiency
  • Beta-Ketothiolase Deficiency
  • Beta Thalassemia
  • Biotinidase Deficiency
  • Bloom Syndrome
  • Canavan Disease
  • CarnitinePalmitoyltransferase IA Deficiency
  • CarnitinePalmitoyltransferase II Deficiency
  • Cartilage-Hair Hypoplasia
  • CerebrotendinousXanthomatosis
  • 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
  • CorticosteroneMethyloxidase Deficiency
  • Creatine Transporter Defect
  • Crigler-Najjar Syndrome
  • Cystic Fibrosis  n>
  • Cystinosis
  • D-Bifunctional Protein Deficiency
  • Diabetes: Recessive Permanent Neonatal
  • Dihydropyrimidine Dehydrogenase Deficiency
  • Du Pan Syndrome
  • Dystrophic EpidermolysisBullosa: Recessive
  • Ehlers-Danlos Syndrome: Type VIIC
  • Ellis-van Creveld Syndrome
  • Emery-Dreifuss Myopathy: X-Linked
  • Enhanced S-Cone
  • EthylmalonicAciduria
  • 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
  • FanconiAnemia: Type C
  • Fragile X Syndrome
  • Fumarase Deficiency
  • Galactokinase Deficiency
  • Gaucher Disease
  • Gitelman Syndrome
  • Globoid Cell Leukodystrophy
  • Glucose-6-Phosphate Dehydrogenase Deficiency
  • GlutaricAcidemia: 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
  • GuanidinoacetateMethyltransferase 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
  • HerlitzJunctionalEpidermolysisBullosa: LAMA3 Related
  • HerlitzJunctionalEpidermolysisBullosa: LAMB3 Related
  • HerlitzJunctionalEpidermolysisBullosa: LAMC2 Related
  • Hermansky-Pudlak Syndrome
  • HMG-CoA Lyase Deficiency
  • HolocarboxylaseSynthetase Deficiency
  • Homocystinuria Caused by CBS Deficiency
  • Hunter Syndrome
  • Hurler Syndrome
  • Hypohidrotic Ectodermal Dysplasia: X-Linked
  • Hypophosphatasia
  • Inclusion Body Myopathy: Type 2
  • IsovalericAcidemia
  • Joubert Syndrome
  • Juvenile Retinoschisis: X-Linked
  • Laryngoonychocutaneous Syndrome
  • LeberAmaurosis
  • 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
  • MethylmalonicAcidemia: MMAA Related
  • MethylmalonicAcidemia: MMAB Related
  • MethylmalonicAcidemia: MUT Related
  • MethylmalonicAciduria 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
  • RhizomelicChondrodysplasiaPunctata: Type I
  • Salla Disease
  • Sandhoff Disease
  • SCID: X-Linked
  • Short Chain Acyl-CoA Dehydrogenase Deficiency
  • Sickle-Cell Anaemia
  • Sjogren-Larsson Syndrome
  • Smith-Lemli-Opitz Syndrome
  • Spinal Muscular Atrophy: SMN1 Linked
  • Stuve-Wiedemann Syndrome
  • Sulphate 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

Why is Genetic Screening Test (PGD) important?

During Genetic Screening Test (PGD), we examine the DNA and its chemical database. The changes (mutations) in the DNA may cause illness or disease, so it enables us to detect those. After 40 years old, it is more likely for the eggs of the women develop illness or disease. (You can check our article about “Age Factor“)

Is Genetic Screening Test (PGD) 100% reliable?

Genetic Screening Test (PGD) is vital for diagnosis and treatment. However, there is always a possibility for a healthy embryo to develop an illness; or vice versa.

 

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