All about Genetic Diagnosis

To ensure the safety of couples and the babies, about to enter the world, genetic diagnosis is conducted to identify any hereditary disease that your body could be carrying. In recent times, the human genome map has been one of the major successes for the science of genetics, and therefore helps improve the success of IVF treatments.

The Diseases You Never Thought Existed

A human body possesses around 46 chromosomes and 90,000 genes. A disease, known as cystic fibrosis, has around 500 mutations, and for this reason, it is extremely essential to test the couples’ for any diseases that could cause harm to their health and/or their future baby’s. There are around 1400 genetic diseases that could carry disorders in them, the disorder carrying diseases can cause birth defects.

Pre-Implantation Genetic Diagnosis

This process determines any genetic abnormalities in the parents’ systems and detects all the possibly alarming health situations in the human body. The diagnosis performed on the embryo in order to get the most accurate results.

The diseases mentioned below can be detected via blood or saliva sample:

• 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
• Acr
– odermatitis 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

Other Diseases that can be detected via blood or saliva sample:

– 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

The other diseases mentioned below can be detected via blood or saliva sample:

– 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

The more diseases mentioned below can be detected via blood or saliva sample:

– 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.