What Conditions Are Screened?

  • Fore Genomics screens for various rare and serious conditions that may impact your baby’s health. 
  • Our condition list spans a broad spectrum of genetic disorders.
  • The conditions are updated annually as researchers learn more about these disorders and how to manage them. 

Cardiovascular 51 Conditions

  • Amyloidosis, Hereditary, Transthyretin-Related
  • Aortic Aneurysm, Familial Thoracic 4
  • Aortic Aneurysm, Familial Thoracic 6
  • Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10
  • Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11
  • Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5
  • Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8
  • Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9
  • Arterial Calcification, Generalized, of Infancy, 1
  • Arterial Calcification, Generalized, of Infancy, 2
  • Barth Syndrome
  • Cardiomyopathy, Dilated, 1AA, with or without LVNC
  • Cardiomyopathy, Dilated, 1D
  • Cardiomyopathy, Dilated, 1R
  • Cardiomyopathy, Familial Hypertrophic, 11
  • Cardiomyopathy, Familial Hypertrophic, 26
  • Cardiomyopathy, Familial Hypertrophic, 9
  • Combined Oxidative Phosphorylation Deficiency 8
  • Dilated Cardiomyopathy 1A
  • Dilated Cardiomyopathy 1E
  • Dilated Cardiomyopathy 3B
  • Ehlers-Danlos Syndrome, Vascular Type
  • Familial Hypertrophic Cardiomyopathy 1
  • Familial Hypertrophic Cardiomyopathy 10
  • Familial Hypertrophic Cardiomyopathy 11
  • Familial Hypertrophic Cardiomyopathy 3
  • Familial Hypertrophic Cardiomyopathy 4
  • Familial Hypertrophic Cardiomyopathy 6
  • Familial Hypertrophic Cardiomyopathy 7
  • Familial Hypertrophic Cardiomyopathy 8
  • Heterotaxy, Visceral, 1, X-Linked
  • Heterotaxy, Visceral, 4, Autosomal
  • Liddle Syndrome 1
  • Liddle Syndrome 2
  • Loeys-Dietz Syndrome 1
  • Loeys-Dietz Syndrome 2
  • Loeys-Dietz Syndrome Type 3
  • Long QT Syndrome 1
  • Long QT Syndrome 2
  • Long QT Syndrome 3
  • Long QT Syndrome 5
  • Marfan Syndrome
  • Mitochondrial Complex I Deficiency nuclear type 20
  • Supravalvular Aortic Stenosis
  • Telangiectasia, Hereditary Hemorrhagic, Type 1
  • Telangiectasia, Hereditary Hemorrhagic, Type 2
  • Tetralogy Of Fallot
  • Ventricular Arrhythmias
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 5

Dermatology 19 Conditions

  • Acrodermatitis Enteropathica, Zinc-Deficiency Type
  • Albinism, Ocular, Type I
  • Albinism, Oculocutaneous, Type IV
  • Clouston Syndrome
  • Dyskeratosis Congenita, Autosomal Dominant 3
  • Dyskeratosis Congenita, Autosomal Dominant 5
  • Dyskeratosis Congenita, Autosomal Dominant, 1
  • Hutchinson-Gilford Progeria Syndrome
  • Ichthyosis, Congenital, Autosomal Recessive 4A
  • Ichthyosis, Congenital, Autosomal Recessive 4B
  • Pilomatrixoma
  • Waardenburg Syndrome, Type 2A
  • Waardenburg Syndrome, Type 2E
  • Waardenburg Syndrome, Type 2E
  • Waardenburg Syndrome, Type 4C
  • Xeroderma Pigmentosum Group A
  • Xeroderma Pigmentosum Group C
  • Xeroderma Pigmentosum, Complementation Group D
  • Xeroderma Pigmentosum, Complementation Group G

Ear, Nose and Throat 54 Conditions

  • Ear, Nose and Throat 54 Conditions
  • Baraitser-Winter Syndrome 1
  • Brown-Vialetto-Van Laere Syndrome 1
  • Brown-Vialetto-Van Laere Syndrome 2
  • Chanarin-Dorfman Syndrome
  • Deafness, Autosomal Dominant 20
  • Deafness, Autosomal Dominant Nonsyndromic Sensorineural 12
  • Deafness, Autosomal Recessive 12
  • Deafness, Autosomal Recessive 15
  • Deafness, Autosomal Recessive 18
  • Deafness, Autosomal Recessive 18B
  • Deafness, Autosomal Recessive 1A
  • Deafness, Autosomal Recessive 1B
  • Deafness, Autosomal Recessive 21
  • Deafness, Autosomal Recessive 23
  • Deafness, Autosomal Recessive 24
  • Deafness, Autosomal Recessive 25
  • Deafness, Autosomal Recessive 28
  • Deafness, Autosomal Recessive 29
  • Deafness, Autosomal Recessive 31
  • Deafness, Autosomal Recessive 36
  • Deafness, Autosomal Recessive 4, Enlarged Vestibular Aqueduct
  • Deafness, Autosomal Recessive 48
  • Deafness, Autosomal Recessive 49
  • Deafness, Autosomal Recessive 59
  • Deafness, Autosomal Recessive 6
  • Deafness, Autosomal Recessive 63
  • Deafness, Autosomal Recessive 67
  • Deafness, Autosomal Recessive 74
  • Deafness, Autosomal Recessive 77
  • Deafness, Autosomal Recessive 79
  • Deafness, Autosomal Recessive 8/10
  • Deafness, Autosomal Recessive 84
  • Deafness, Autosomal Recessive 84B
  • Deafness, Autosomal Recessive 9
  • Deafness, Neurosensory, Autosomal Recessive 2
  • Deafness, Neurosensory, Autosomal Recessive 3
  • Deafness, Neurosensory, Autosomal Recessive 42
  • Deafness, Neurosensory, Autosomal Recessive 7
  • Deafness, Sensorineural, with Pituitary Dwarfism
  • Jervell and Lange-Nielsen Syndrome 1
  • Jervell and Lange-Nielsen Syndrome 2
  • Otitis Media, Susceptibility to
  • Pendred Syndrome
  • Stickler Syndrome, Type I
  • Stickler Syndrome, Type II
  • Usher Syndrome, Type I
  • Usher Syndrome, Type IC
  • Usher Syndrome, Type ID
  • Usher Syndrome, Type IF
  • Usher syndrome, Type IG
  • Usher Syndrome, Type IIA
  • Usher Syndrome, Type IID
  • Waardenburg Syndrome, type 1
  • Wolfram Syndrome 1

Endocrinology 56 Conditions

  • Achalasia-Addisonianism-Alacrima Syndrome
  • ACTH Deficiency, Isolated
  • Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency
  • Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency
  • Adrenal Hyperplasia, 3-Beta-HSD 2 Deficiency
  • Adrenal Hypoplasia, Congenital
  • Adrenal Insufficiency, with 46XY Sex Reversal, Partial or Complete
  • Congenital Nongoitrous Hypothryoidism 6
  • Corticosterone Methyloxidase Type I Deficiency
  • Diabetes Mellitus, Permanent Neonatal 3
  • Diabetes Mellitus, Permanent Neonatal 4
  • Disordered Steroidogenesis
  • Frasier Syndrome
  • Glucocorticoid Deficiency 1
  • Hyperaldosteronism, Familial, Type III
  • Hyperinsulinemic Hypoglycemia, Familial, 2
  • Hyperinsulinemic Hypoglycemia, Familial, 3
  • Hyperinsulinemic Hypoglycemia, Familial, 4
  • Hyperinsulinemic Hypoglycemia, Familial, 6
  • Hyperinsulinemic Hypoglycemia, Familial, 7
  • Hypermanganesemia with Dystonia 1
  • Hypermanganesemia with Dystonia 2
  • Hyperparathyroidism, Neonatal Severe
  • Hypocalcemia, Autosomal Dominant 1
  • Hypothyroidism, Central, and Testicular Enlargement
  • Hypothyroidism, Congenital, Nongoitrous, 1
  • Hypothyroidism, Congenital, Nongoitrous, 2
  • Hypothyroidism, Congenital, Nongoitrous, 4
  • Hypothyroidism, Congenital, Nongoitrous, 5
  • Hypothyroidism, Congenital, Nongoitrous, 7
  • Hypothyroidism, Congenital, Nongoitrous, 8
  • Hypothyroidism, Congenital, Nongoitrous, 9
  • Leptin Deficiency or Dysfunction
  • Lipoid Congenital Adrenal Hyperplasia
  • Maturity-Onset Diabetes of The Young, Type 1
  • Maturity-Onset Diabetes of the Young, Type 5
  • Maturity-Onset Diabetes of the Young, Type III
  • Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair
  • Pancreatic Agenesis 2
  • Pancreatic Agenesis and Congenital Heart Defects
  • Pancreatic Agenesis, Congenital
  • Panhypopituitarism X-Linked
  • Pituitary Hormone Deficiency, Combined or Isolated, 7
  • Pituitary Hormone Deficiency, Combined, 1
  • Pituitary Hormone Deficiency, Combined, 2
  • Pituitary Hormone Deficiency, Combined, 4
  • Pituitary Hormone Deficiency, Combined, 5
  • Premature Ovarian Failure 7
  • Primary Aldosteronism, Seizures, and Neurologic Abnormalities
  • Thyroid Dyshormonogenesis 6
  • Thyroid Hormone Metabolism, Abnormal
  • Thyroid Hormonogenesis, Genetic Defect in, 1
  • Thyroid Hormonogenesis, Genetic Defect in, 2A
  • Thyroid Hormonogenesis, Genetic Defect in, 3
  • Thyroid Hormonogenesis, Genetic Defect in, 4
  • Thyroid Hormonogenesis, Genetic Defect in, 5

Gastroenterology 18 Conditions

  • Alagille Syndrome 1
  • Alagille Syndrome 2
  • Benign Recurrent Intrahepatic Cholestasis Type 2
  • Bile Acid Synthesis Defect, Congenital, 1
  • Bile Acid Synthesis Defect, Congenital, 2
  • Bile Acid Synthesis Defect, Congenital, 3
  • Bile Acid Synthesis Defect, Congenital, 5
  • Bile Acid Synthesis Defect, Congenital, 6
  • Cholestasis, Progressive Familial Intrahepatic 2
  • Cholestasis, Progressive Familial Intrahepatic, 3
  • Crigler-Najjar Syndrome, Type I
  • Crigler-Najjar Syndrome, Type II
  • Diarrhea 1, Secretory Chloride, Congenital
  • Diarrhea 4, Malabsorptive, Congenital
  • Dubin-Johnson Syndrome
  • Hemochromatosis, Type 1
  • Liver Failure, Infantile, Transient
  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5

Hematology 66 Conditions

  • Afibrinogenemia, Congenital Hypofibrinogenemia
  • Alpha-Thalassemia
  • Amegakaryocytic Thrombocytopenia, Congenital
  • Angioedema, Hereditary, 1
  • Beta Thalassemia
  • Bone Marrow Failure Syndrome 3
  • Bone Marrow Failure Syndrome 4
  • Chediak-Higashi Syndrome
  • Elliptocytosis-3
  • Factor VII Deficiency
  • Factor X Deficiency
  • Factor XIII, A Subunit, Deficiency of
  • Factor XIIIB Deficiency
  • Fanconi Anemia, Complementation Group B
  • Fanconi Anemia, Complementation Group C
  • Fanconi Anemia, Complementation Group D2
  • Fanconi Anemia, Complementation Group E
  • Fanconi Anemia, Complementation Group F
  • Fanconi Anemia, Complementation Group G
  • Fanconi Anemia, Complementation Group I
  • Fanconi Anemia, Complementation Group J
  • Fanconi Anemia, Complementation Group L
  • Fanconi Anemia, Complementation Group N
  • Fanconi Anemia, Complementation Group O
  • Fanconi Anemia, Complementation Group P
  • Fanconi Anemia, Complementation Group Q
  • Fanconi Anemia, Complementation Group T
  • Fanconi Anemia, Complementation Group V
  • Fanconi Anemia, Complementation Group W
  • Folate Malabsorption, Hereditary
  • Hemolytic Anemia, G6PD deficient (Favism)
  • Hemophilia A
  • Hemophilia B
  • Intrinsic Factor Deficiency
  • Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
  • Megaloblastic Anemia, Folate-Responsive
  • MIRAGE Syndrome
  • Neutropenia, Severe Congenital 3, Autosomal Recessive
  • Neutropenia, Severe Congenital 4, Autosomal Recessive
  • Neutropenia, Severe Congenital 5, Autosomal Recessive
  • Neutropenia, Severe Congenital 6, Autosomal Recessive
  • Neutropenia, Severe Congenital 7, Autosomal Recessive
  • Neutropenia, Severe Congenital, 1, Autosomal Dominant
  • Neutropenia, Severe Congenital, 2, Autosomal Dominant
  • Neutropenia, Severe Congenital, 8, Autosomal Dominant
  • Nijmegen Breakage Syndrome
  • Paroxysmal Nocturnal Hemoglobinuria
  • Pyruvate Kinase Deficiency Of Red Cells
  • Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
  • Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2
  • Shwachman-Diamond Syndrome 1
  • Shwachman-Diamond Syndrome 2
  • Sickle Cell Anemia
  • Sideroblastic Anemia with B-Cell Immunodeficiency
  • Spherocytosis, Type 1
  • Spherocytosis, Type 2
  • Spherocytosis, Type 4
  • Spherocytosis, Type 5
  • Thalassemia-Beta, Dominant Inclusion-Body
  • Thiamine-Responsive Megaloblastic Anemia Syndrome
  • Thrombocytopenia 8
  • Thrombotic Thrombocytopenic Purpura, Hereditary
  • Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1
  • Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2
  • Von Willebrand Disease, Type 3

Immunology 73 Conditions

  • Agammaglobulinemia 3, Autosomal Recessive
  • Agammaglobulinemia 4, Autosomal Recessive
  • Agammaglobulinemia 6, Autosomal Recessive
  • Agammaglobulinemia 7, Autosomal Recessive
  • Agammaglobulinemia 8, Autosomal Recessive
  • Agammaglobulinemia 8B, Autosomal Recessive
  • Agammaglobulinemia, X-Linked
  • B-Cell Expansion With NFKB and T-Cell Anergy
  • Bare lymphocyte Syndrome, Type II
  • Chronic Granulomatous Disease 3, Autosomal Recessive
  • Chronic Granulomatous Disease 5, Autosomal Recessive
  • Chronic Granulomatous Disease, X-Linked
  • Combined Immunodeficiency and Megaloblastic Anemia
  • Familial Cold Autoinflammatory Syndrome 4
  • Familial Mediterranean Fever, AR
  • Granulomatous Disease, Chronic, Cytochrome B-Negative
  • Granulomatous Disease, Chronic, Cytochrome B-Positive, Type II
  • Hemophagocytic Lymphohistiocytosis, Familial, 2
  • Hemophagocytic Lymphohistiocytosis, Familial, 3
  • Hemophagocytic Lymphohistiocytosis, Familial, 4
  • Hemophagocytic Lymphohistiocytosis, Familial, 5
  • Hepatic Venoocclusive Disease with Immunodeficiency
  • Hyper-IgE Syndrome 2, with Recurrent Infections
  • Immunodeficiency 105, Severe Combined
  • Immunodeficiency 11B With Atopic Dermatitis
  • Immunodeficiency 15B
  • Immunodeficiency 18
  • Immunodeficiency 19
  • Immunodeficiency 26 With or Without Neurologic Abnormalities
  • Immunodeficiency 40
  • Immunodeficiency 41 With Lymphoproliferation
  • Immunodeficiency 48
  • Immunodeficiency 67
  • Immunodeficiency 68
  • Immunodeficiency 8
  • Immunodeficiency due to Defect in MAPBP-Interacting Protein
  • Immunodeficiency due to Purine Nucleoside Phosphorylase
  • Immunodeficiency with Hyper IgM, Type 2
  • Immunodeficiency with Hyper IgM, Type 3
  • Immunodeficiency with Hyper IgM, Type 5
  • Immunodeficiency-110 with Lymphoproliferation
  • Immunodeficiency, Common Variable, 10
  • Immunodeficiency, Common Variable, 11
  • Immunodeficiency, Common Variable, 13
  • Immunodeficiency, Common Variable, 2
  • Immunodeficiency, Common Variable, 8, With Autoimmunity
  • Immunodeficiency, X-Linked, with hyper-IgM
  • Immunodeficiency, X-Linked, with MD, EBV Infection, Neoplasia
  • Immunodysregulation, Polyendocrinopathy, X-Linked
  • Isolated Growth Hormone Deficiency, Type III
  • Leukocyte Adhesion Deficiency, Type I
  • Leukocyte Adhesion Deficiency, Type III
  • LIG4 Syndrome
  • Lymphoproliferative Syndrome 1
  • Lymphoproliferative Syndrome 2
  • Lymphoproliferative Syndrome 3
  • Lymphoproliferative Syndrome, X-Linked, 1
  • Lymphoproliferative Syndrome, X-Linked, 2
  • Mevalonic Aciduria
  • Omenn Syndrome
  • Periodic Fever, Immunodeficiency, and Thrombocytopenia
  • Reticular Dysgenesia
  • Scid, Autosomal Recessive, T-Negative/B-Positive Type
  • Severe Immunodeficiency with Sensitivity to Ionizing Radiation
  • Severe Combined Immunodeficiency, T Cell-, B Cell-, Nk Cell-
  • Severe Combined Immunodeficiency, T Cell+, B Cell+, NK Cell+
  • Severe Combined Immunodeficiency, T Cell-, B Cell+, NK Cell+
  • Severe Combined Immunodeficiency, X-Linked
  • Spondyloenchondrodysplasia with Immune Dysregulation
  • T-Cell ID, Congenital Alopecia, and Nail Dystrophy
  • Vasculitis, AI, Immunodeficiency, and Hematologic Defects
  • Wiskott-Aldrich Syndrome
  • Wiskott-Aldrich Syndrome 2

Malformations 19 Conditions

  • Achondroplasia
  • Amelogenesis imperfecta, Hypomaturation Type, IIA3
  • Craniometaphyseal Dysplasia, Autosomal Dominant
  • Crisponi/Cold-Induced Sweating Syndrome 1
  • Fibrodysplasia Ossificans Progressiva
  • Hypertrichotic Osteochondrodysplasia
  • Insulin-Like Growth factor I Deficiency
  • Laron syndrome
  • Neurofibromatosis, Type I
  • Neurofibromatosis, Type II
  • Osteogenesis Imperfecta Type I
  • Osteogenesis Imperfecta Type II
  • Osteopetrosis, Autosomal Recessive 1
  • Osteopetrosis, Autosomal Recessive 3
  • Osteopetrosis, Autosomal Recessive 7
  • Osteopetrosis, Autosomal Recessive 8
  • Short Stature and Advanced Bone Age
  • Smith-Lemli-Opitz Syndrome
  • Weill-Marchesani Syndrome 1

Metabolic 167 Conditions

  • 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency
  • 2-Methylbutyryl-Coa Dehydrogenase Deficiency
  • 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
  • 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
  • 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
  • 3-Methylcrotonyl-Coa Carboxylase Deficiency
  • 3-Methylglutaconic Aciduria, Type I
  • 3-Methylglutaconic Aciduria, Type III
  • 3-Methylglutaconic Aciduria, Type IX
  • 3-Methylglutaconic Aciduria, Type VIIA, Autosomal Dominant
  • Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of
  • Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of
  • Alkaptonuria
  • Alpha-Mannosidosis
  • Alpha-Methylacetoacetic Aciduria
  • Aminoacylase 1 Deficiency
  • Argininemia
  • Argininosuccinic Aciduria
  • Aromatic L-Amino Acid Decarboxylase Deficiency
  • Bile acid synthesis defect, congenital, 4
  • Biotinidase Deficiencymultiple Carboxylase Deficiency
  • Canavan Disease
  • Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia
  • Carnitine Acylcarnitine Translocase Deficiency
  • Carnitine Deficiency, Systemic Primary
  • Carnitine Palmitoyltransferase I Deficiency
  • Carnitine Palmitoyltransferase II Deficiency, Infantile
  • Citrullinemia, Classic
  • Citrullinemia, Type II, Neonatal-Onset
  • Combined Malonic and Methylmalonic Aciduria
  • Congenital Disorder of Glycosylation, Type IA
  • Congenital Disorder of Glycosylation, Type IB
  • Congenital Disorder of Glycosylation, Type IIC
  • Congenital Disorder of Glycosylation, Type IIK
  • Congenital Disorder of Glycosylation, Type IIM
  • Congenital Disorder of Glycosylation, Type IIN
  • Congenital Disorder of Glycosylation, Type IT
  • Cystathioninuria
  • Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic
  • Cystinosis, Nephropathic
  • Cystinuria
  • Danon Disease
  • Diabetes Mellitus, Transient Neonatal, 3
  • Dihydrolipoamide Dehydrogenase Deficiency
  • Fabry Disease
  • Fructose Intolerance, Hereditary
  • Fructose-1,6-Bisphosphatase Deficiency
  • Galactokinase Deficiency
  • Galactose Epimerase Deficiency
  • Galactosemia
  • Galactosemia IV
  • Glutaric Acidemia I
  • Glutathione Synthetase Deficiency
  • Glycine Encephalopathy 2
  • Glycine N-Methyltransferase Deficiency
  • Glycogen Storage Disease 0, Liver
  • Glycogen Storage Disease IA
  • Glycogen Storage Disease IB
  • Glycogen Storage Disease IC
  • Glycogen Storage Disease II
  • Glycogen Storage Disease III
  • Glycogen Storage Disease Type IXB
  • Glycogen Storage Disease Type IXC
  • Glycogen Storage Disease VI
  • Glycogen Storage Disease, Type IXA1
  • GM1-Gangliosidosis, Type I
  • GM1-Gangliosidosis, Type II
  • GM1-Gangliosidosis, Type III
  • HMG-CoA Synthase-2 Deficiency
  • Holocarboxylase Synthetase Deficiency
  • Homocystinuria due to Cystathionine Beta-Synthase Deficiency
  • Homocystinuria due to Methylene Tetrahydrofolate Reductase
  • Homocystinuria-Megaloblastic Anemia, cbl E Type
  • Homocystinuria-Megaloblastic Anemia, cblg Complementation
  • Hurler Syndrome
  • Hurler-Scheie Syndrome
  • Hyperammonemia due to Carbonic Anhydrase VA Deficiency
  • Hypercholesterolemia, Familial, 1
  • Hypercholesterolemia, Familial, 2
  • Hypercholesterolemia, Familial, 3
  • Hypercholesterolemia, Familial, 4
  • Hyperinsulinemic Hypoglycemia, Familial, 1
  • Hyperlipidemia, Familial Combined, 3
  • Hyperlysinemia, Type I
  • Hypermethioninemia due to Adenosine Kinase Deficiency
  • Hypermethioninemia with S-Adenosylhomocysteine Hydrolase
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria
  • Hyperphenylalaninemia, BH4-Deficient, A
  • Hyperphenylalaninemia, BH4-deficient, B
  • Hyperphenylalaninemia, BH4-Deficient, C
  • Hyperphenylalaninemia, BH4-Deficient, D
  • Hyperphenylalaninemia, Mild, non-BH4-Deficient
  • Hypoglycemia of Infancy, Leucine-Sensitive
  • Hypomagnesemia 1, Intestinal
  • Hypophosphatasia, Childhood
  • Isobutyryl-CoA Dehydrogenase Deficiency
  • Isovaleric Acidemia
  • Krabbe Disease
  • Lipid Storage Myopathy
  • Lipodystrophy, Congenital Generalized, Type 1
  • Lipodystrophy, Congenital Generalized, Type 2
  • Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase
  • Lysinuric Protein Intolerance
  • Lysosomal Acid Lipase Deficiency
  • Malonyl-CoA Decarboxylase Deficiency
  • Maple Syrup Urine Disease
  • Maple Syrup Urine Disease, Mild Variant
  • Metachromatic Leukodystrophy
  • Methionine Adenosyltransferase I/III Deficiency
  • Methylmalonic Acidemia and Homocysteinemia, Cblx Type
  • Methylmalonic Aciduria and Homocystinuria, CblC Type
  • Methylmalonic Aciduria and Homocystinuria, CblD Type
  • Methylmalonic Aciduria and Homocystinuria, CblF Type
  • Methylmalonic Aciduria and Homocystinuria, CblJ Type
  • Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase
  • Methylmalonic Aciduria, Transient
  • Methylmalonic Aciduria, Vitamin B12-Responsive, cblA Type
  • Methylmalonic Aciduria, Vitamin B12-Responsive, cblB Type
  • Methylmalonyl-Coa Epimerase Deficiency
  • Mitochondrial Complex I Deficiency, Nuclear Type 20
  • Mitochondrial Complex IV Deficiency, Nuclear Type 1
  • Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)
  • Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency
  • Mitochondrial Trifunctional Protein Deficiency
  • Mitochondrial Trifunctional Protein Deficiency 2
  • Molybdenum Cofactor Deficiency, Complementation Group A
  • Mucopolysaccharidosis IVA
  • Mucopolysaccharidosis type IIIA
  • Mucopolysaccharidosis type IIIB
  • Mucopolysaccharidosis Type IIIC
  • Mucopolysaccharidosis VII
  • Mucopolysaccharidosis, type II
  • Mucopolysaccharidosis, Type IIID
  • Mucopolysaccharidosis, Type VI
  • Multiple Acyl-CoA-Dehydrogenase Deficiency
  • N-Acetylglutamate Synthase Deficiency
  • Niemann-Pick Disease, Type A
  • Niemann-Pick Disease, Type B
  • Niemann-Pick Disease, Type C1
  • Niemann-Pick Disease, Type C2
  • Ornithine Transcarbamylase Deficiency, Hyperammonemia
  • Orotic Aciduria
  • Peroxisomal Acyl-CoA Oxidase Deficiency
  • Phenylketonuria
  • Phosphoglycerate Dehydrogenase Deficiency
  • Propionic Acidemia
  • Pyruvate Dehydrogenase E1 Alpha Deficiency
  • Pyruvate Dehydrogenase E1 Beta Deficiency
  • Pyruvate Dehydrogenase E2 Beta Deficiency
  • Pyruvate Dehydrogenase E3 Binding Protein Deficiency
  • Pyruvate Dehydrogenase Phosphatase Deficiency
  • Scheie Syndrome
  • Sitosterolemia 2
  • Succinic Semialdehyde Dehydrogenase Deficiency
  • Succinyl CoA:3-Oxoacid CoA Transferase Deficiency
  • Tay-Sachs Disease
  • Thiamine Metabolism Dysfunction Syndrome 2
  • Thiamine Metabolism Dysfunction Syndrome 4
  • Thiamine Metabolism Dysfunction Syndrome 5
  • Transcobalamin II Deficiency
  • Type I Hyperlipoproteinemia
  • Tyrosine Transaminase Deficiency
  • Tyrosinemia, Type I
  • Tyrosinemia, Type III
  • Very Long Chain Acyl-Coa Dehydrogenase Deficiency
  • Wilson Disease
  • Wolman Disease

Neurology 68 Conditions

  • Abetalipoproteinemia
  • Aceruloplasminemia
  • Acute Intermittent Porphyria
  • Anemia, Sideroblastic, and Spinocerebellar Ataxia
  • Aspartylglucosaminuria
  • Ataxia With Isolated Vitamin E Deficiency
  • Ataxia-Pancytopenia Syndrome
  • Benign Familial Infantile Seizures 3
  • Benign Familial Infantile Seizures 5
  • Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency
  • Cerebral Creatine Deficiency Syndrome 2
  • Cerebral Creatine Deficiency Syndrome 3
  • Cerebrotendinous Xanthomatosis
  • Ceroid Lipofuscinosis, Neuronal, 2
  • Charcot-Marie-Tooth disease, Type 4K
  • Coenzyme Q10 Deficiency, Primary, 1
  • Coenzyme Q10 Deficiency, Primary, 2
  • Coenzyme Q10 Deficiency, Primary, 3
  • Coenzyme Q10 Deficiency, Primary, 4
  • Coenzyme Q10 Deficiency, Primary, 5
  • Coenzyme Q10 Deficiency, Primary, 6
  • Coenzyme Q10 Deficiency, Primary, 7
  • Coenzyme Q10 Deficiency, Primary, 8
  • Coenzyme Q10 Deficiency, Primary, 9
  • Developmental and Epileptic Encephalopathy 2
  • Duchenne Muscular Dystrophy
  • Dystonia 9
  • Dystonia, DOPA-Responsive, Due to Sepiapterin Reductase
  • Dystonia, DOPA-Responsive
  • Dystonia, Juvenile-Onset
  • Epilepsy, Benign Neonatal, 2
  • Epilepsy, Early-Onset, Vitamin B6-Dependent
  • Epilepsy, Pyridoxine-Dependent
  • Epileptic Encephalopathy, Early Infantile, 11
  • Epileptic Encephalopathy, Early Infantile, 13
  • Epileptic Encephalopathy, Early Infantile, 6
  • Epileptic Encephalopathy, Early Infantile, 7
  • Episodic Kinesigenic Dyskinesia 1
  • Ethylmalonic Encephalopathy
  • GABA-Transaminase Deficiency
  • Glut1 Deficiency Syndrome 1, Infantile Onset, Severe
  • Glut1 Deficiency Syndrome 2
  • Hyperprolinemia, Type I
  • Hyperprolinemia, Type II
  • Insensitivity to Pain, Congenital, with Anhidrosis
  • Leukoencephalopathy, Progressive, with Ovarian Failure
  • Menkes Disease
  • Migraine, Familial Hemiplegic, 3
  • Myasthenic Syndrome, Congenital, 10
  • Myasthenic Syndrome, Congenital, 12, with Tubular Aggregates
  • Myasthenic Syndrome, Congenital, 13, with Tubular Aggregates
  • Myasthenic Syndrome, Congenital, 14
  • Myasthenic Syndrome, Congenital, 15
  • Myasthenic Syndrome, Congenital, 1B, Fast-Channel
  • Myasthenic Syndrome, Congenital, 6, Presynaptic
  • Myopathy, Scapulohumeroperoneal
  • Neurodegeneration due to Cerebral Folate Transport Deficiency
  • Pitt-Hopkins Syndrome
  • Porphyria, Acute Hepatic
  • Protoporphyria, Erythropoietic, 1
  • Protoporphyria, Erythropoietic, X-Linked
  • Pyridoxamine 5′-Phosphate Oxidase Deficiency
  • Rett Syndrome
  • Segawa Syndrome, Autosomal Recessive
  • Seizures, Benign Familial Neonatal, 1
  • Tuberous Sclerosis 1
  • Tuberous Sclerosis 2
  • Visceral myopathy 1

Oncology (Pediatric) 24 Conditions

  • Adenomatous Polyposis Coli
  • Basal Cell Nevus Syndrome
  • Basal Cell Nevus Syndrome 2
  • Breast-Ovarian Cancer, Familial, Susceptibility to, 1
  • Breast-Ovarian Cancer, Familial, Susceptibility to, 2
  • Cowden Syndrome 1
  • Familial Adenomatous Polyposis, 2
  • Juvenile Polyposis Syndrome
  • Li-Fraumeni Syndrome
  • Lynch Syndrome 1
  • Multiple Endocrine Neoplasia 1
  • Multiple Endocrine Neoplasia, Type IIA
  • Multiple Endocrine Neoplasia, Type IIB
  • Paragangliomas 1
  • Paragangliomas 2
  • Paragangliomas 3
  • Paragangliomas 4
  • Paragangliomas 5
  • Peutz-Jeghers Syndrome
  • Pheochromocytoma
  • Retinoblastoma
  • Thyroid Carcinoma, Familial Medullary
  • Von Hippel-Linday Syndrome
  • WilmsTumor 1

Ophthalmology 11 Conditions

  • Cone-Rod Dystrophy 3
  • Dyschromatosis Universalis Hereditaria 3
  • Gyrate Atrophy of Choroid and Retina with or without Ornithinemia
  • Infantile Cerebellar-Retinal Degeneration
  • Leber Congenital Amaurosis, Type II
  • Microphthalmia, Isolated, with Coloboma 7
  • Optic Atrophy 1
  • Optic Atrophy 9
  • Retinitis Pigmentosa 20
  • Retinitis Pigmentosa 39
  • Stargardt disease 1

Respiratory 6 Conditions

  • Central Hypoventilation Syndrome, Congenital, 1
  • Cystic Fibrosis
  • Hermansky-Pudlak Syndrome 1
  • Hermansky-Pudlak Syndrome 2
  • Hermansky-Pudlak Syndrome 4
  • Surfactant Metabolism Dysfunction, Pulmonary, 3

Urology 34 Conditions

  • Alport Syndrome 2, Autosomal Recessive
  • Alport Syndrome 3, Autosomal Dominant
  • Alport Syndrome, X-Linked
  • Apparent Mineralocorticoid Excess
  • Bartter Syndrome, Type 1, Antenatal
  • Bartter Syndrome, Type 2
  • Bartter Syndrome, Type 3
  • Bartter Syndrome, Type 4A, With Sensorineural Deafness
  • Bartter Syndrome, Type 5, Antenatal, Transient
  • Bronchiectasis with or Without Elevated Sweat Chloride 1
  • Bronchiectasis with or Without Elevated Sweat Chloride 2
  • Bronchiectasis with or Without Elevated Sweat Chloride 3
  • Diabetes Insipidus, Nephrogenic, 2
  • Diabetes Insipidus, Nephrogenic, X-Linked
  • Hypophosphatemic Rickets with Hypercalciuria, Hereditary
  • Hypophosphatemic Rickets, X-Linked dominant
  • Nephrogenic Syndrome of Inappropriate Antidiuresis
  • Nephrotic Syndrome, Type 14
  • Nephrotic Syndrome, Type 9
  • Polycystic Kidney Disease 2
  • Polycystic Kidney Disease 3
  • Polycystic Kidney Disease 4
  • Primary Hyperoxaluria, Type 1
  • Primary Hyperoxaluria, Type 2
  • Primary Hyperoxaluria, Type 3
  • Pseudohypoaldosteronism, Type I, Autosomal Recessive
  • Pseudohypoaldosteronism, Type IB2, Autosomal Recessive
  • Pseudohypoaldosteronism, Type IB3, Autosomal Recessive
  • Renal Tubular Acidosis, Distal, With Hemolytic Anemia
  • Renal Tubular Acidosis, Proximal
  • Rickets, Vitamin D-Resistant, Type IIA
  • Surfactant Metabolism Dysfunction, Pulmonary, 2
  • Vitamin D Hydroxylation-Deficient Rickets, Type 1A
  • Vitamin D Hydroxylation-Deficient Rickets, Type 1B
These tests were developed and performance characteristics were determined by Fore Genomics, Inc. in collaboration with Fore’s service providers. The US Food and Drug Administration (FDA) has not approved or cleared these tests; however, FDA clearance approval is not currently required for clinical use. These tests are used for clinical purposes, and therefore validation was done as required under the requirements of the Clinical Laboratory Improvement Act (CLIA) of 1988. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. The chance of a false negative or a false-positive result due to laboratory error cannot be completely excluded. These results should not be regarded as investigational or for research.