GeneSeqDx carrier Screening panels use Next Generation Sequencing (NGS) to analyze mutations that cause genetic inherited diseases. Carrier screening testing will include the following NGS panels:
1. Common Genetic Disorders
Some genetic disorders are relatively common and carrier screening is recommended regardless of ethnic background and these genetic diseases will include.
Cystic Fibrosis
Fragile X Syndrome
Spinal Muscular Atrophy
2. ACOG Recommendation
Carrier screening test follows the American College of Obstetricians and Gynecologists (ACOG) recommendations and screen patients for 7 genetic diseases
Beta-Thalassemia
Alpha-Thalassemia
Sickle Cell Disease
Canavan Disease
Cystic Fibrosis
Familial Dysautonomia
Tay-Sachs Disease
3. ACMG Recommendation
Carrier screening test follows the American College of Medical Genetics and Genomics (ACMG)recommendations and screen patients for 10 genetic diseases
Cystic Fibrosis
Spinal Muscular Atrophy
Bloom’s Syndrome
Canavan Disease
Familial Dysautonomia
Fanconi Anemia Group C
Gaucher Disease
Mucolipidosis Type IV
Niemann-Pick Disease Type A/B
Tay-Sachs Disease
4. Custom
Next generation sequencing panel that analyzes carrier screening panel of your choice associated with different type of genetic diseases.
5. Comprehensive
Complete Next Generation Sequencing carrier screening panel that can detect for 350+ genetic disorders. Example of the common genetic diseases:
Cystic Fibrosis
Spinal Muscular Dystrophy
Fragile X Syndrome
Alpha Thalassemia
Beta Thalassemia
Sickle Cell Disease
Bloom’s Syndrome
Canavan Disease
Familial Dysautonomia
Fanconi Anemia Group C
Gaucher Disease
Mucolipidosis Type IV
Niemann-Pick Disease Type A/B
Tay-Sachs Disease
Dihydrolipamide Dehydrogenase Deficiency & Maple Syrup Urine Disease Type A/B
Familial Hyperinsulinism
Glycogen Storage Disease Type Ia
Joubert Syndrome 2
Nemaline Myopathy
Usher Syndrome Type IF
Usher Syndrome Type III
Walker-Warburg Syndrome
3-Hydroxyl-CoA Dehydrogenase Deficiency
Glycogen Storage Disease Type II
Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 2
6. Ethnicity Specific Tests
Patients can be screened for specific genetic disease based on their ethnic background
- Mediterranean
Hemoglobinopathies are a diverse group of blood disorders seen in Mediterranean populations and these blood disorders will include
Beta-Thalassemia
Alpha-Thalassemia
Sickle Cell Disease
- Ashkenazi Jewish
Some genetic disorders are more prevalent in the Jewish population originating from Eastern and Central Europe. This group is known as Ashkenazi and it represents the vast majority of Jewish individuals in North America. Ashkenazi Jewish diseases will include
Cystic Fibrosis
Bloom’s Syndrome
Canavan Disease
Familial Dysautonomia
Familial Hyperinsulinism
Fanconi Anemia Group C
Gaucher Disease
Glycogen Storage Disease Type Ia
Joubert Syndrome 2
Maple Syrup Urine Disease Type 1A/1B
Mucolipidosis Type IV
Nemaline Myopathy
Niemann-Pick Disease Type A/B
Tay-Sachs Disease
Usher Syndrome Type IF
Usher Syndrome Type III
Walker-Warburg Syndrome
- African American
People of African American descent typically have common genetic disorders and carrier screening is recommended. Diseases that are more common among African American are referred to as African Genetic Diseases and these genetic diseases will include:
Beta-Thalassemia
Alpha-Thalassemia
Sickle Cell Disease
Carnitine Palmitoyltransferase II Deficiency
Cystic Fibrosis
Fanconi Anemia Group C
Fragile X Syndrome
Galactosemia
Glutaric Acidemia Type 1
Glycogen Storage Disease Type 2
Hereditary Fructose Intolerance
Methylmalonic Aciduria Type 0
Pendred Syndrome
Phenylketonuria
Smith Lemli Opitz Syndrome
Spinal Muscular Atrophy
Tay-Sachs Disease
Tyrosinemia Type I
- Asian
People of Asian descent typically have common genetic disorders and carrier screening is recommended. Diseases that are more common among Asian are referred to as Asian Genetic Diseases and these genetic diseases will include:
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
Alpha-Thalassemia
Beta-Hemoglobinopathies: Beta Thalassemia and Sickle Cell Disease
Beta-Ketothiolase Deficiency
Carbamoyl Phosphate Synthetase I Deficiency
Carnitine Deficiency
Carnitine Palmitoyltransferase II Deficiency
Citrin Deficiency
Citrullinemia, Type I
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related
Congenital Insensitivity to Pain with Anhidrosis (CIPA)
Cystic Fibrosis
Cystinosis
Factor XI Deficiency
Fragile X Syndrome
Galactokinase Deficiency (Galactosemia, Type II)
Glutaric Acidemia, Type IIC
Glycogen Storage Disease, Type 1A
Glycogen Storage Disease, Type 2 (Pompe Disease)
Holocarboxylase Synthetase Deficiency
Hypophosphatasia, Autosomal Recessive
Inclusion Body Myopathy 2
Isovaleric Acidemia
Limb-Girdle Muscular Dystrophy, Type 2A
Lipoid Adrenal Hyperplasia
Lipoprotein Lipase Deficiency
Maple Syrup Urine Disease, Type 1B
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Methylmalonic Aciduria and Homocystinuria, Type cblC
Methylmalonic Aciduria, Type mut(0)
Mucolipidosis II/IIIA
Mucopolysaccharidosis, Type IIIB (Sanfilippo B)
Mucopolysaccharidosis, Type IIIC (Sanfilippo C)
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)
Niemann Pick Disease, Type C1/D
Non-syndromic Hearing Loss
Pendred Syndrome
Phenylketonuria
Propionic Acidemia, alpha subunit
Propionic Acidemia, beta subunit
Segawa Syndrome, Autosomal Recessive
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophy
Tay-Sachs Disease
Tyrosinemia, Type I
Usher Syndrome, Type 1B
Very-Long Chain Acyl-CoA Dehydrogenase Deficiency
Wilson Disease
Zellweger Spectrum Disorders, PEX10-Related
- Latin America
People of Latin American descent typically have common genetic disorders and carrier screening is recommended. Diseases that are more common among Latin American are referred to as Hispanic Genetic Diseases and these genetic diseases will include:
Beta Thalassemia
Sickle Cell Disease
Biotinidase Deficiency
Cystic Fibrosis
Cystinosis
Fragile X Syndrome
Galactosemia
Hereditary Fructose Intolerance
Limb-Girdle Muscular Dystrophy, Type 2A
Methylmalonic Aciduria, Type mut(0)
Spinal Muscular Atrophy
- Caucasian
People of Caucasian descent typically have common genetic disorders and carrier screening is recommended. Diseases that are more common among Caucasian are referred to as Caucasian Genetic Diseases and these genetic diseases will include:
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency
Abetalipoproteinemia
Achromatopsia
Alpha-Mannosidosis
Alpha-Thalassemia
Alport Syndrome, COL4A3-Related
Aspartylglycosaminuria
Ataxia With Vitamin E Deficiency
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Batten Disease (Neuronal Ceroid Lipofuscinosis, CLN3-Related)
Beta-Hemoglobinopathies: Beta Thalassemia and Sickle Cell Disease
Beta-Ketothiolase Deficiency
Biotinidase Deficiency
Carbamoyl Phosphate Synthetase I Deficiency
Carnitine Deficiency
Carnitine Palmitoyltransferase II Deficiency
Carpenter Syndrome
Citrin Deficiency
Citrullinemia, Type I
Congenital Amegakaryocytic Thrombocytopenia
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related
Congenital Myasthenic Syndrome, CHRNE-associated
Congenital Myasthenic Syndrome, RAPSN-Related
Cystic Fibrosis
Cystinosis
Factor XI Deficiency
Familial Hypercholesterolemia, LDLR-Related
Fragile X Syndrome
Galactosemia
Gaucher Disease
Glutaryl-CoA Dehydrogenase Deficiency (Glutaric Acidemia, Type 1)
Glycine Encephalopathy, AMT-Related
Glycine Encephalopathy, GLDC-Related
Glycogen Storage Disease, Type 1A
Glycogen Storage Disease, Type 1B
Glycogen Storage Disease, Type 2 (Pompe Disease)
Glycogen Storage Disease, Type 4
Glycogen Storage Disease, Type 5 (McArdle Disease)
GRACILE Syndrome (Mitochondrial Respiratory Chain Complex III Deficiency)
Hemochromatosis, Type 2A
Hereditary Fructose Intolerance
Holocarboxylase Synthetase Deficiency
Homocystinuria
Homocystinuria, Type cblE
Inclusion Body Myopathy 2
Isovaleric Acidemia
Lamellar Ichthyosis, Type 1
Limb-Girdle Muscular Dystrophy, Type 2A
Limb-Girdle Muscular Dystrophy, Type 2D
Limb-Girdle Muscular Dystrophy, Type 2E
Lipoprotein Lipase Deficiency
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Maple Syrup Urine Disease, Type 1A
Maple Syrup Urine Disease, Type 1B
Meckel-Gruber Syndrome, Type 1
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Methylmalonic Aciduria and Homocystinuria, Type cblC
Methylmalonic Aciduria and Homocystinuria, Type cblD
Methylmalonic Aciduria, MMAA-Related
Methylmalonic Aciduria, MMAB-Related
Methylmalonic Aciduria, Type mut(0)
Mucolipidosis II/IIIA
Mucolipidosis III gamma
Mucopolysaccharidisis, Type IIIA (Sanfilippo A)
Mucopolysaccharidosis, Type IIIB (Sanfilippo B)
Mucopolysaccharidosis, Type IIIC (Sanfilippo C)
Mucopolysaccharidosis, Type IVB (GM1 Gangliosidosis)
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)
Myoneurogastrointestinal Encephalopathy (MNGIE)
Niemann Pick Disease, Type C1/D
Niemann-Pick Disease, Types A/B
Nijmegen Breakage Syndrome
Non-syndromic Hearing Loss
Pendred Syndrome
Phenylketonuria
Polycystic Kidney Disease, Autosomal Recessive
Propionic Acidemia, alpha subunit
Propionic Acidemia, beta subunit
Retinitis Pigmentosa 25
Rhizomelic Chondrodysplasia Punctata, Type I
Sandhoff Disease
Segawa Syndrome, Autosomal Recessive
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophy
Tay-Sachs Disease
Tyrosinemia, Type I
Usher Syndrome, Type 1B
Usher Syndrome, Type 2A
Very-Long Chain Acyl-CoA Dehydrogenase Deficiency
Wilson Disease
Wolman Disease
Zellweger Spectrum Disorders, PEX1-Related (Infantile Refsum Disease)
Zellweger Spectrum Disorders, PEX2-Related