DISEASES

Gynecology

  • Down Syndrome
  • Edwards syndrome
  • Patau syndrome
  • Turner syndrome
  • Cri-du-chat syndrome
  • Klinefelter Syndrome
  • Prader-Willi Syndrome
  • Angelman Syndrome
  • Digeorge Syndrome
  • Cystic Fibrosis
  • Spinal Muscular Atrophy
  • Fragile X Syndrome
  • Beta Thalassemia
  • Sickle Cell Disease/Trait
  • Duchane Muscular Dystrophy
  • Congenital Adrenal Hyperplasia
  • Alpha Thalassemia
  • Intellectual disability
  • Congenital glaucoma
  • Bardet–Biedl syndrome
  • Meckel– Gruber syndrome
  • organic acidaemia
  • lysosomal storage disorders
  • retinal dystrophies
  • Hearing loss and primary microcephaly
  • Thrombocytopenia
  • Spherocytosis
  • Hemolytic anemia
  • G6PD deficient
  • C6 deficiency
  • Aminoacylase 1 deficiency
  • Sitosterolemia 2
  • Chronic granulomatous disease
  • Breast Cancer
  • Ovarian Cancer

Minagene’s Preimplantation Genetic Testing

Minagene’s NIPT Advanced Test

Minagene’s NIPT

obstetrics

  • Down Syndrome
  • Edwards syndrome
  • Patau syndrome
  • Turner syndrome
  • Cri-du-chat syndrome
  • Klinefelter Syndrome
  • Prader-Willi Syndrome
  • Angelman Syndrome
  • Digeorge Syndrome
  • Cystic Fibrosis
  • Spinal Muscular Atrophy
  • Fragile X Syndrome
  • Beta Thalassemia
  • Sickle Cell Disease/Trait
  • Duchane Muscular Dystrophy
  • Congenital Adrenal Hyperplasia
  • Alpha Thalassemia
  • Intellectual disability
  • Congenital glaucoma
  • Bardet–Biedl syndrome
  • Meckel– Gruber syndrome
  • organic acidaemia
  • lysosomal storage disorders
  • retinal dystrophies
  • Hearing loss and primary microcephaly
  • Thrombocytopenia
  • Spherocytosis
  • Hemolytic anemia
  • G6PD deficient
  • C6 deficiency
  • Aminoacylase 1 deficiency
  • Sitosterolemia 2
  • Chronic granulomatous disease
  • Breast Cancer
  • Ovarian Cancer

Minagene’s Preimplantation Genetic Testing

Minagene’s NIPT Advanced Test

Minagene’s NIPT

Cardiology

  • Ovarian Cancer
  • Cystic Fibrosis
  • Spinal Muscular Atrophy
  • Fragile X Syndrome
  • Beta Thalassemia
  • Sickle Cell Disease/Trait
  • Duchane Muscular Dystrophy
  • Congenital Adrenal Hyperplasia
  • Alpha Thalassemia
  • Intellectual disability
  • Congenital glaucoma
  • Bardet–Biedl syndrome
  • Meckel– Gruber syndrome
  • organic acidaemia
  • lysosomal storage disorders
  • retinal dystrophies
  • Hearing loss and primary microcephaly
  • Thrombocytopenia
  • Spherocytosis
  • Hemolytic anemia
  • G6PD deficient
  • C6 deficiency
  • Aminoacylase 1 deficiency
  • Sitosterolemia 2
  • Chronic granulomatous disease
  • Breast Cancer

Minagene’s Germline Mutation Test for Hereditary Cancers

Minagene’s Homologous Recombination Repair Gene Testing

Minagene’s BRCA

Endocrinology

  • maturity-onset diabetes of the young
  • Congenital Adrenal Hyperplasia

Minagene's Maturity-onset Diabetes of the Young (MODY) Genetic Testing

Gastroenterology

  • Parasitic infections
  • Viral gastroenteritis
  • Bacterial gastroenteritis

Gastrointestinal Pathogen Test

Medical Genetics

  • Breast Cancer
  • Small Cell Lung Cancer
  • thalassemia
  • Nephrotic syndrome
  • Alport syndrome
  • Autosomal dominant polycystic kidney disease (ADPKD)

Minagene’s Homologous Recombination Repair Gene Testing

Minagene’s BRCA

Hematology

  • thalassemia
  • Acute Myeloid Leukemia

Minagene's Thalassemia Mutation Test

Immunology

  • Cystic Fibrosis
  • Spinal Muscular Atrophy
  • Fragile X Syndrome
  • Beta Thalassemia
  • Sickle Cell Disease/Trait
  • Duchane Muscular Dystrophy
  • Congenital Adrenal Hyperplasia
  • Alpha Thalassemia
  • Intellectual disability
  • Congenital glaucoma
  • Bardet–Biedl syndrome
  • Meckel– Gruber syndrome
  • organic acidaemia
  • lysosomal storage disorders
  • retinal dystrophies
  • Hearing loss and primary microcephaly
  • Thrombocytopenia
  • Spherocytosis
  • Hemolytic anemia
  • G6PD deficient
  • C6 deficiency
  • Aminoacylase 1 deficiency
  • Sitosterolemia 2
  • Chronic granulomatous disease
  • Breast Cancer
  • Ovarian Cancer

Minagene's Clinical Exome V4

Minagene's Genetics of Ophthalmic Disorders: Advancing Precision Medicine in Ophthalmology

Minagene's Trio Exome Test

ExomeMax

Whole Exome Sequencing

Minagene’s Carrier Screening

Pediatrics

  • Cystic Fibrosis
  • Spinal Muscular Atrophy
  • Fragile X Syndrome
  • Beta Thalassemia
  • Sickle Cell Disease/Trait
  • Duchane Muscular Dystrophy
  • Congenital Adrenal Hyperplasia
  • Alpha Thalassemia
  • Intellectual disability
  • Congenital glaucoma
  • Bardet–Biedl syndrome
  • Meckel– Gruber syndrome
  • organic acidaemia
  • lysosomal storage disorders
  • retinal dystrophies
  • Hearing loss and primary microcephaly
  • Thrombocytopenia
  • Spherocytosis
  • Hemolytic anemia
  • G6PD deficient
  • C6 deficiency
  • Aminoacylase 1 deficiency
  • Sitosterolemia 2
  • Chronic granulomatous disease

Minagene's Clinical Exome V4

Minagene's Genetics of Ophthalmic Disorders: Advancing Precision Medicine in Ophthalmology

Minagene's Trio Exome Test

ExomeMax

Whole Exome Sequencing

Minagene’s Carrier Screening

Oncology

  • Cystic Fibrosis
  • Spinal Muscular Atrophy
  • Fragile X Syndrome
  • Beta Thalassemia
  • Sickle Cell Disease/Trait
  • Duchane Muscular Dystrophy
  • Congenital Adrenal Hyperplasia
  • Alpha Thalassemia
  • Intellectual disability
  • Congenital glaucoma
  • Bardet–Biedl syndrome
  • Meckel– Gruber syndrome
  • organic acidaemia
  • lysosomal storage disorders
  • retinal dystrophies
  • Hearing loss and primary microcephaly
  • Thrombocytopenia
  • Spherocytosis
  • Hemolytic anemia
  • G6PD deficient
  • C6 deficiency
  • Aminoacylase 1 deficiency
  • Sitosterolemia 2
  • Chronic granulomatous disease
  • Breast Cancer
  • Ovarian Cancer
  • Acute Myeloid Leukemia
  • Hodgkin Lymphoma
  • Non-Hodgkin Lymphoma
  • Multiple Myeloma

Minagene's Clinical Exome V4

Minagene's Genetics of Ophthalmic Disorders: Advancing Precision Medicine in Ophthalmology

Minagene's Trio Exome Test

ExomeMax

Whole Exome Sequencing

Minagene’s Carrier Screening

Infectious Diseases

  • Meningitis
  • Encephalitis
  • Ocular Herpes
  • Ocular Toxoplasmosis
  • Endophthalmitis
  • Uveitis
  • Conjunctivitis
  • Keratitis
  • Parasitic infections
  • Viral gastroenteritis
  • Bacterial gastroenteritis

CNS Infections Syndrome Evaluation System

medical microbiologists

  • Ocular Herpes
  • Ocular Toxoplasmosis
  • Endophthalmitis
  • Uveitis
  • Conjunctivitis
  • Keratitis
  • Parasitic infections
  • Viral gastroenteritis
  • Bacterial gastroenteritis

Eye Infections Syndrome Evaluation System

Metabolic Medicine

  • Phenylketonuria (PKU)
  • Maple syrup urine disease

Minagene's Metabolic Genetics

Nephrology

  • Autosomal dominant polycystic kidney disease (ADPKD)
  • Alport syndrome
  • Nephrotic syndrome

Minagene's Nephro Genetics

Ophthalmology

  • High Myopia
  • Nanophthalmos
  • X-Linked Retinitis Pigmentosa (XLRP)

Minagene's PRSS56 and MFRP Gene Analysis

Pulmonology

  • tuberculosis (TB)
  • Non-Small Cell Lung Cancer
  • Small Cell Lung Cancer

Minagene’s Tuberculosis Diagnostics Solution

Neurology

  • Cystic Fibrosis
  • Spinal Muscular Atrophy
  • Fragile X Syndrome
  • Beta Thalassemia
  • Sickle Cell Disease/Trait
  • Duchane Muscular Dystrophy
  • Congenital Adrenal Hyperplasia
  • Alpha Thalassemia
  • Intellectual disability
  • Congenital glaucoma
  • Bardet–Biedl syndrome
  • Meckel– Gruber syndrome
  • organic acidaemia
  • lysosomal storage disorders
  • retinal dystrophies
  • Hearing loss and primary microcephaly
  • Thrombocytopenia
  • Spherocytosis
  • Hemolytic anemia
  • G6PD deficient
  • C6 deficiency
  • Aminoacylase 1 deficiency
  • Sitosterolemia 2
  • Chronic granulomatous disease
  • Encephalitis
  • Meningitis
  • Hereditary neuropathies
  • Neurodegenerative disorders
  • Epilepsy syndromes

Minagene's Clinical Exome V4

Minagene's Genetics of Ophthalmic Disorders: Advancing Precision Medicine in Ophthalmology

Minagene's Trio Exome Test

ExomeMax

Whole Exome Sequencing

Minagene’s Carrier Screening

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