What Diseases Can Be Detected Through Genetic Testing

By ⁠Dr. Brandon Colby MD, a medical expert in the fields of genomics and personalized preventive medicine.

This article is part of Sequencing.com’s Education Center section - ⁠Genetic Testing for Disease.

So far, you’ve learned about how genetic testing can help you identify your risk of diseases to begin a path of prevention, which is always easier than treatment after a diagnosis. You’ve also learned what a genetic disease is, so now we’ll put it all together to identify what diseases can be detected through genetic testing.

what diseases can be detected through genetic testing

Genetic Testing: A Light on Genetic Disorders

The breakthroughs in genomics have enabled individuals to learn what genetic disorders they may be predisposed to through genetic testing. Genetic tests are not only performed with blood samples. They can be just as effective with saliva obtained by a swab of the cheek or by spitting into a test tube. Also, genetic testing can now be performed in the privacy and convenience of a person’s home.

Now that you know that genetic tests are highly accessible, you may be wondering what diseases DNA tests can identify.

Genes, DNA, and Chromosomes: How They Affect Susceptibility to Disease

To understand how DNA testing identifies diseases, you first need to know how genes, DNA, and chromosomes play into whether someone suffers from a disease.

Every living organism is made up of cells. Those cells have deoxyribonucleic acid (DNA), and they have four chemicals: Adenine (A), Thymine (T), Cytosine (C), and Guanine (G). DNA looks like strands wrapped together. The wrapped-together strands are chromosomes.

There are 23 pairs of chromosomes in the body, or 46 total chromosomes—23 from each parent. The information in those chromosomes (made up of genes and DNA) dictates how the body functions.

If there are gene mutations, there is a possibility the person may suffer from a disease. Researchers have been able to identify genes responsible for particular diseases, so by using a microscope they can detect genetic mutations in a person’s DNA and what genetic diseases may occur because of it.

Genetic risk is only a risk. There is no guarantee someone will suffer from a disease just because they may have a gene mutation. Environmental factors play a role in the onset of disease.

This is why it is often said that someone has a predisposition to a disease or they are at higher risk of suffering from it, rather than that they have a genetic diagnosis for it.

It’s also important to realize genes can become mutated due to environmental hazards. While this is rare, it can happen as cells repair themselves—such as in the case of cancer.

Because genes are passed down from parents, family history is very important when it comes to genetic disorders. That’s why genetic counselors and healthcare providers are always interested in knowing about genetic conditions in family members, such as breast cancer or cystic fibrosis.

Carrier Screening and Prenatal Genetic Testing

Pregnant women often debate whether or not they want to do genetic testing to identify any possible health concerns their baby may have after birth. They weigh the risks of amniocentesis (removing amniotic fluid) and chorionic villus sampling. Unless there are factors for increased risk of chromosomal abnormalities (like trisomy), many women decide not to have the tests.

Unfortunately, many pregnant women are not aware that DNA testing can also identify the risk of birth defects and other abnormalities. A DNA test is completely safe, and the genetic information is accurate. If any risks are seen in the DNA test results, parents have access to genetic counseling where they can discuss the results and any needed medical care.

Genetic testing for diseases can be done at any time. The National Institutes of Health (NIH) recommend that potential parents seek genetic testing before conceiving (preimplantation). This recommendation is for all ethnic groups but emphasized for those in a high-risk population, such as those of Ashkenazi Jewish descent.

What Diseases Can Be Detected Through Genetic Testing

Not all gene tests are created equal. The ones purchased from CVS will not return genetic information on all the diseases researchers have been able to identify. Even some well-known DNA testing companies, such as 23andMe, MyHeritage, and Ancestry.com, will not produce comprehensive results.

⁠Whole Genome Sequencing is the best DNA test for detecting diseases through genetic testing. Sequencing the full human genome ensures all genes are analyzed, so even rare diseases are included in the results.

At one time, clinical-grade whole genome sequencing was only available through geneticists and genetic counselors in a clinical setting in the United States. However, with advancements in technology, this type of DNA test is available online and no longer needs a blood test.

People can submit their DNA samples easily by mail and use the raw data they receive from the lab to analyze their DNA with a carrier screening or rare disease analysis app. The reports are easy to read, and people who are concerned can follow up with health-care professionals.

For instance, Rare Disease Screen is a great app for genetic testing for disease. It can identify the following genetic diseases:

17 Alpha-hydroxylase / 17,20-Lyase Deficiency, Combined Complete
17 Beta-hydroxysteroid Dehydrogenase 3 Deficiency
25-hydroxyvitamin D Deficiency
2-methyl-3-hydroxybutyryl-CoA Dehydrogenase Deficiency
3-methylcrotonyl-CoA Carboxylase 1 Deficiency, Biotin Responsive
3-methylcrotonyl-CoA Carboxylase 2 Deficiency
3-methylglutaconic Aciduria, Type III
Aarskog-Scott syndrome
Achromatopsia
Achromatopsia 3
Acquired Idiopathic Sideroblastic Anemia
Acromesomelic Dysplasia, Maroteaux Type
Actin Myopathy
Acute Hepatic Porphyria, Severe Infantile-onset
Acute Lymphoblastic Leukemia
Acute Myeloid Leukemia with Complex Karyotype
Adenine Phosphoribosyltransferase Deficiency
Adenosine Deaminase Deficiency, Partial
Adenosine Monophosphate Deaminase Deficiency
Adenylosuccinase Deficiency
Adiponectin Deficiency
Adrenal Hyperplasia
Adrenal Hyperplasia II, Deficiency of 3-Beta-hydroxysteroid Dehydrogenase, Type II
Adrenal Hypoplasia, Congenital
Adrenal Insufficiency, Congenital
Adrenoleukodystrophy, Neonatal
Agammaglobulinemia
Agammaglobulinemia and Isolated Growth Hormone Deficiency
Alagille Syndrome
Albinism, Ocular, Type I
Albinism, Oculocutaneous, Type I, Temperature Sensitive
Albinism, Oculocutaneous, Type IA
Albinism, Oculocutaneous, Type III
Alexander Disease
Alkaptonuria
Allan-Herndon-Dudley Syndrome
Alopecia Areata
Alopecia Universalis Congenita
Alpers Syndrome
Alpers-like Hepatocerebral Syndrome
Alpha-1-Antitrypsin Deficiency
Alpha-B Crystallinopathy with Cataract
Alport Syndrome
Alström Syndrome
Alzheimer’s Disease, Early-onset (Familial)
Amish Infantile Epilepsy Syndrome
Amyloid Polyneuropathy, Andrade or Portuguese Type
Amyloidosis I
Amyloidosis I, Hereditary Neuropathic
Amyloidosis III
Amyloidosis, Familial, Finnish Type
Amyloidosis, Familial, Visceral
Amyloidosis, Reactive Amyloid Systemic
Amyloidotic Polyneuropathy, Cardiac or Denmark Type
Amyloidotic Polyneuropathy, German-American Type
Andermann Syndrome
Andersen Cardiodysrhythmic Periodic Paralysis
Anderson Disease
Androgen Insensitivity Syndrome
Androgen Insensitivity Syndrome, Infertility, Male
Androgen Insensitivity, Complete
Androgen Insensitivity, Partial
Angelman Syndrome
Aniridia
Antenatal Bartter Syndrome, Type 2
Antiplasmin Alpha 2 Deficiency
Antithrombin III Deficiency
Aortic Aneurysm, Familial Thoracic
Aortic Aneurysm, Familial Thoracic 4
Aortic Aneurysm, Familial Thoracic 5
Apert Syndrome
Apolipoprotein A2 Deficiency
Apolipoprotein B Deficiency
Apolipoprotein H Deficiency
APRT Deficiency
APRT Deficiency, Japanese Type
Aquaporin-1 Deficiency Colton-Null
Argininemia
Argininosuccinic Aciduria
Arterial Aneurysms, Familial
Arthrogryposis, Distal, Type 2A
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome
Arylsulfatase A Pseudodeficiency
Ascending Spastic Paralysis, Infantile-onset
Leber Hereditary Optic Atrophy
Ataxia
Ataxia, Episodic / Myokymia
Ataxia and Retinitis Pigmentosa with Isolated Vitamin E Deficiency
Ataxia, Isolated Vitamin E Deficiency
Ataxia, Spinocerebellar
Ataxia, Spinocerebellar, 6
Ataxia Telangiectasia
Ataxia Telangiectasia without Immunodeficiency
Ataxia Telangiectasia-like Disease
Ataxia-ocular Apraxia 2
Atelosteogenesis, Type IB
Atelosteogenesis, Type II
Atrial Septal Defect
Atrial Septal Defect with Atrioventricular Conduction Defects
Atrichia with Papular Lesions
Atrioventricular Block, Idiopathic Second-Degree
Atrioventricular Septal Sefect
ATRX Syndrome
Auditory Neuropathy, Nonsyndromic
Auditory Neuropathy, Temperature-sensitive
Autoimmune and Autoinflammatory Diseases
Autoimmune Lymphoproliferative Syndrome, Type II
Autoimmune Lymphoproliferative Syndrome, Type IIA
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
Azoospermia, Obstructive
Bardet-Biedl Syndrome 1
Bardet-Biedl Syndrome 4
Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 13
Bardet-Biedl Syndrome 14
Bare Lymphocyte Syndrome, Type I
Bart Syndrome
Barth syndrome
Bartter Syndrome
Bartter Syndrome, Antenatal, Type 1
Bartter Syndrome, Type 3
Beare-Stevenson Cutis Gyrata Syndrome
Benign Familial Hematuria
Benign Hereditary Chorea
Berardinelli-Seip lipodystrophy
Bernard-Soulier Syndrome, Type A
Bernard-Soulier Syndrome, Type C
Beta Thalassemia
Beta-hexosaminidase A, Pseudodeficiency of
Bethlem Myopathy
Bilateral Striatal Necrosis, Infantile
Bile Acid Synthesis Defect, Congenital, 4
Biliary Atresia, Extrahepatic
Biotinidase Deficiency
Biotinidase Deficiency, Partial
Blau Syndrome
Blepharophimosis, Ptosis, and Epicanthus Inversus, Type I
Blindness
Color Blindness, Deutan
Night Blindness, Congenital Stationary, Type 1
Night Blindness, Congenital Stationary, Type 1B
Night Blindness, Congenital Stationary, Type 2
Night Blindness, Congenital Stationary, Type 2, Severe
Night Blindness, Congenital Stationary, Type 2B
Blood Group Variant: Auberger Au(a)/Au(b) | Auberger Blood Group Polymorphism
Blood Group Variant: Bombay Phenotype
Blood Group Variant: Colton
Blood Group Variant: Diego
Blood Group Variant: Dombrock
Blood Group Variant: Dombrock-null
Blood Group Variant: Froese
Blood Group Variant: Kidd
Blood Group Variant: Lewis Antigen, absence of
Blood Group Variant: p Phenotype
Blood Group Variant: P(k) Antigen
Blood Group Variant: Ralph
Blood Group Variant: Swann
Blood Group Variant: Waldner
Blood Group Variant: Wright
Bloom Syndrome
Borjeson-Forssman-Lehmann Syndrome
Bothnia Retinal Dystrophy Retinitis Punctata Albescens
Brachydactyly, Type A1
Brachydactyly, Type A2
Brachydactyly, Type B1
Brachydactyly, Type C
Brachydactyly, Type E
Brachydactyly, Type D
Butyrylcholinesterase Deficiency
Butyrylcholinesterase Deficiency, Fluoride-resistant, Japanese Type
C (Opitz Trigonocephaly) Syndrome
Cabezas Syndrome
Caffey Disease
Camurati-Engelmann Disease
Canavan Disease
Capillary Malformation-Arteriovenous Malformation
Carbohydrate-deficient Glycoprotein Syndrome, Type II
Carbonic Anhydrase Deficiency
Cardiac Conduction Disease
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency
Cardiofaciocutaneous Syndrome
Cardiomyopathy, X-linked Infantile
Carney Complex
Carney Complex Variant
Carnitine Deficiency, Systemic Primary
Carnitine Palmitoyltransferase Deficiency, Hepatic, Type IA
Carnitine Palmitoyltransferase II Deficiency
Carnitine Palmitoyltransferase II Deficiency, Infantile
Carnitine Palmitoyltransferase II Deficiency, Late-onset
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Carnitine-acylcarnitine Translocase Deficiency
Cartilage-Hair Hypoplasia
Caspase-8 Deficiency
Cataract, Central Nuclear
Cataract, Congenital
Cataract, Coppock-like
Cataract, Marner Type
Cataract, Ocular Anterior Dysgenesis and Coloboma
Cataract, Primary Congenital
Cataract, Congenital Lamellar
Caudal Regression Syndrome
CD36 Deficiency
Central Core Disease
Central Hypoventilation Syndrome
Centronuclear Myopathy
Centronuclear Myopathy, Becker Muscular Dystrophy
Cerebellar Ataxia, Cataracts, and Diabetes Mellitus
Cerebellar Ataxia, Cayman Type
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebral Cavernous Malformations
Cerebroarterial Amyloidosis, Icelandic-type
Cerebrooculofacioskeletal Syndrome 4
Cerebrotendinous Xanthomatosis
Cerulean Cataract, Congenital
Cervical Artery Dissections, Spontaneous
Chanarin-Dorfman Syndrome
Charcot-Marie-Tooth Disease, Type 1A
Charcot-Marie-Tooth Disease, Type 1B
Charcot-Marie-Tooth Disease, Type 1D
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Charcot-Marie-Tooth Disease, Axonal, Type 2A2
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Charcot-Marie-Tooth Disease, Type 2F
Charcot-Marie-Tooth Disease, Type 2J
Charcot-Marie-Tooth Disease, Type 4C
Charcot-Marie-Tooth Disease, Type 4F
Charcot-Marie-Tooth Disease, Type 4H
Charcot-Marie-Tooth Disease, Type 4J
Charcot-Marie-Tooth Disease, Type 5
Charcot-Marie-Tooth Disease, Type 6
CHARGE Syndrome
Chediak-Higashi Syndrome, Childhood Type
Cherubism
Cholesterol Ester Storage Disease
Cholinesterasaemia
Chondrocalcinosis 2
Chondrodysplasia Punctata
Choreoacanthocytosis
Choroideremia
Chronic Granulomatous Disease, Cytochrome b-Negative
Chronic Granulomatous Disease, Cytochrome b-Positive, Chronic
Chronic Granulomatous Disease, Cytochrome b-Positive, Type II
Chronic Insomnia
Chronic Obstructive Pulmonary Disease, Severe Early-onset
Chylomicron Retention Disease
Ciliary Dyskinesia, Primary
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft Palate and Ankyloglossia
Cleidocranial Dysplasia
Coagulation Defect, Vitamin K-Dependent
Cohen Syndrome
Combined Deficiency of Vitamin K-dependent Clotting Factors, Type 2
Combined Oxidative Phosphorylation Deficiency
Combined SAP Deficiency
Complement C2 Deficiency, Type II
Complement C3 Deficiency
Complement C5 Deficiency
Complete Adenine Phosphoribosyltransferase Deficiency, Icelandic Type
Complex 1 Deficiency
Complex 3 Deficiency
Cone-rod Dystrophy
Cone-rod Dystrophy 3
Cone-rod Dystrophy 3
Cone-rod Dystrophy 6
Cone-rod Dystrophy 9
Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia due to Steroid-11 Beta-hydroxylase Deficiency
Congenital Adrenal Hyperplasia, Non-classic
Congenital Afibrinogenemia, Congenital Hypofibrinogenemia
Congenital Cataract
Congenital Central Hypoventilation Syndrome
Congenital Disorder of Glycosylation, Type Ia
Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic
Congenital Disorder of Glycosylation, Type Id
Congenital Disorder of Glycosylation, Type Ig
Congenital Disorder of Glycosylation, Type Ik
Congenital Disorder of Glycosylation, Type IIc
Congenital Erythropoietic Porphyria
Congenital Erythropoietic Porphyria, Mild, Cutaneous-only
Congenital Fast Channel Myasthenic Syndrome
Congenital Heart Defects
Congenital Heart Disease Heterotaxy
Congenital Insensitivity to Pain Syndrome
Congenital Lipoid Adrenal Hyperplasia
Congenital Merosin Deficient Muscular Dystrophy
Congenital Muscular Dystrophy, Type 1C, with Neurologic Abnormalities
Congenital Myasthenic Syndrome
Congenital Myasthenic Syndrome associated with Acetylcholine Receptor Deficiency
Congenital Nephrosis 1, Finnish Type
Congenital Sick Sinus Syndrome
Congenital Slow Channel Myasthenic Syndrome
Conjunctivitis, Ligneous
Connatal Pelizaeus-Merzbacher Disease
Contractural Arachnodactyly, Congenital
Coproporphyria
Corticosteroid-binding Globulin Deficiency
Costello Syndrome
Cowden Disease Bannayan-Riley-Ruvalcaba Syndrome
Cowden Disease Bannayan-Riley-Ruvalcaba Syndrome, Macrocephaly/Autism Syndrome
Craniofrontonasal Syndrome
Craniometaphyseal Dysplasia
Craniosynostosis Muenke Syndrome
Creutzfeldt-Jakob Syndrome
Crigler-Najjar Syndrome 1
Crigler-Najjar Syndrome 2
Crouzon syndrome
Crouzon Syndrome with Acanthosis Nigricans
Crouzonodermoskeletal Syndrome
Cutis Laxa
Cystathioninuria
Cystic Fibrosis
Cystic Fibrosis, Non-classic
Cystinuria
Cystinuria, Non-type I
Cytochrome c Oxidase Deficiency
Cytochrome P450 Deficiency
Danon Disease
Darier Disease
Deafness, Childhood-onset
Deafness, Aminoglycoside-induced
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness, Congenital, Neurosensory
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Neurosensory
Deafness, Neurosensory 21
Deafness, Neurosensory without Vestibular Involvement
Deafness, Nonsyndromic
Deafness, Nonsyndromic Sensorineural
Deafness, Autosomal Recessive 1
Deafness, Nonsyndromic Sensorineural 3
Deafness, Nonsyndromic Sensorineural 8
Deafness, Nonsyndromic Sensorineural 12
Deafness, Autosomal Dominant 12
Deafness, Nonsyndromic Sensorineural with Dentinogenesis Imperfecta, Type I
Deafness, Progressive
Deafness, Sensorineural, with Migraine
Deafness, Sensorineural, with Mild Renal Dysfunction
Decreased Androgen (DHEA) Secretion
Deficiency of 3-Beta-hydroxysteroid Dehydrogenase, Type II
Deficiency of Factor XIII, A Subunit
Dejerine-Sottas Neuropathy
Delayed Sleep Phase Syndrome
Demyelinating Charcot-Marie-Tooth Disease 4A Axonal Neuropathy with Vocal Cord Paresis, Axonal Charcot-Marie-Tooth Disease, Type 2K
Dent Disease
Dentinogenesis Imperfecta, Severe, with Very Mild Osteogenesis Imperfecta
Dentinogenesis Imperfecta, Type I
Dentinogenesis Imperfecta, Shields Type II
Dentinogenesis Imperfecta, Shields Type III
Denys-Drash Syndrome
Denys-Drash Syndrome Mesangial Sclerosis, Isolated Diffuse
Desmosterolosis
Diabetes Insipidus, Central
Diabetes Insipidus, Nephrogenic
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Permanent Neonatal
Diarrhea, Malabsorptive, Congenital
Diastrophic Dysplasia
Dihydropteridine Reductase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency, Possible 5-FU Toxicity
Dihydropyrimidine Dehydrogenase Deficiency, Partial
Dilatative Myopathy
Disordered Steroidogenesis
Distal Arthrogryposis Syndrome 1
Distal Arthrogryposis Syndrome 2b
Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis with Late-onset Sensorineural Hearing Loss
Distal Renal Tubular Acidosis with Progressive Deafness
Dopamine Beta Hydroxylase Deficiency
Drug-induced Hemolysis Haemoglobin Variant
Dubin-Johnson Syndrome
Dysalbuminemic Hyperthyroxinaemia, Familial
Dysautonomia, Familial
Dysfibrinogenaemia
Fibrinogen Amiens 1
Fibrinogen Amiens 2
Fibrinogen Bergamo 3
Fibrinogen Bern 2
Fibrinogen Bicetre 1
Fibrinogen Birmingham 1
Fibrinogen Chapel Hill 2
Fibrinogen Clermont-Ferrand 1
Fibrinogen Giessen 1
Fibrinogen Leitchfield
Fibrinogen Long Beach 1
Fibrinogen Louisville 1
Fibrinogen Manchester 1
Fibrinogen Paris 6
Fibrinogen Petoskey 1
Fibrinogen Seattle 2
Fibrinogen Sheffield 2
Fibrinogen Sydney 1
Fibrinogen Sydney 2
Fibrinogen White Marsh 1
Dysfibrinogenemia
Dysfibrinogenemia, Fibrinogen Bergamo 1
Dysfibrinogenemia Thrombophilia, Dysfibrinogenemic
Fibrinogen Hershey 2
Fibrinogen Homburg 2
Fibrinogen Homburg 3
Fibrinogen Kawaguchi 1
Fibrinogen Leogan
Fibrinogen Metz 1
Fibrinogen New Albany
Fibrinogen Osaka 1
Fibrinogen Schwarzach 1
Fibrinogen Stony Brook 1
Fibrinogen Zurich 1
Fibrinogen Torino 1
Fibrinogen Ledyard
Fibrinogen Hershey 3
Fibrinogen Milano XII, Digenic
Dyskeratosis Congenita
Dystonia 12
Dystonia, Adult-onset
Dystonia, Dopa-responsive
Dystonia, Torsion
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome, Cardiac Valvular Form
Ehlers-Danlos Syndrome, Progeroid Form
Ehlers-Danlos Syndrome, Spondylocheiro Dysplastic Form
Ehlers-Danlos Syndrome, Type I
Ehlers-Danlos Syndrome, Type II
Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type VI-A
Ehlers-Danlos Syndrome, Type VI-A, Nevo Syndrome
Ehlers-Danlos Syndrome, Type VII
Ehlers-Danlos Syndrome, Type VII-A
Ehlers-Danlos Syndrome, Type VII-B
Elliptocytosis
Elliptocytosis, Hemolytic Anemia, Neonatal Nonimmune, Fatal and Near-fatal
Elliptocytosis, Rhesus-Unlinked Type
Elliptocytosis, Rhesus-Unlinked Type, Pyropoikilocytosis, Hereditary
Encephalopathy, Ethylmalonic
Encephalopathy, Familial, with Neuroserpin Inclusion Bodies
Enhanced S-cone Syndrome
Enhanced S-cone Syndrome, Retinitis Pigmentosa
Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica, Localisata Variant
Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex, Ogna Type
Epidermolysis Bullosa with Pyloric Atresia
Epidermolysis Bullosa without Pyloric Atresia, Generalized Atrophic Benign
Epidermolysis Bullosa, Dowling-Meara
Epidermolysis Bullosa, Generalized Atrophic Benign
Epidermolysis Bullosa, Herlitz
Epidermolysis Bullosa, Junctional
Epidermolysis Bullosa, Junctional, Herlitz Type
Epidermolysis Bullosa, Junctional, with Pyloric Atresia
Epidermolysis Bullosa, Koebner
Epidermolysis Bullosa, Lethal Acantholytic
Epidermolysis Bullosa, Pretibial
Epidermolysis Bullosa, Weber-Cockayne
Epidermolytic Hyperkeratosis
Epidermolytic Palmoplantar Keratoderma associated with Knuckle Pads
Epilepsy, Benign Neonatal
Epilepsy, Childhood Absence
Epilepsy, Nocturnal Frontal Lobe
Epilepsy, Progressive Myoclonus
Epilepsy, Juvenile Absence
Epilepsy, Juvenile Myoclonic
Epilepsy, Severe Myoclonic, of Infancy (Dravet Syndrome)
Epilepsy, Myoclonic, of Lafora
Epilepsy, Myoclonic, with Mental Retardation and Spasticity
Epiphyseal Dysplasia
Epoxide Hydrolase Deficiency, Susceptibility to Lymphoproliferative Disorder
Epstein Syndrome
Erythermalgia, Primary
Erythrocyte Lactate Transporter Defect
Escobar Syndrome
Essential Fructosuria
Ethylmalonic Aciduria
Excessive Daytime Sleepiness
Exostoses, Multiple, Type II
Extrapyramidal Movement Disorder
Fabry Disease
Faciogenital Dysplasia with Attention Deficit Hyperactivity Disorder
Factor H Deficiency
Factor V and Factor VIII Deficiency, Combined
Factor V Deficiency
Factor VII Deficiency
Factor X Deficiency
Factor XI Deficiency
Factor XII Deficiency
Familial Advanced Sleep Phase Syndrome
Familial Cold Autoinflammatory Syndrome
Familial Dysautonomia
Familial Mediterranean Fever
Fanconi Anemia, Complementation Group A
Fanconi Anemia, Complementation Group C
Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N
Farber Lipogranulomatosis
Fechtner Syndrome
Fibromatosis, Juvenile Hyaline
Fish-eye Disease
Focal Segmental Glomerulosclerosis
Foveomacular Dystrophy, Adult-onset, with Choroidal Neovascularization
Fragile X Mental Retardation Syndrome
Frasier Syndrome
Friedreich Ataxia
Friedreich-Like Ataxia with Isolated Vitamin E Deficiency
Frontotemporal Dementia
Frontotemporal Dementia, with Parkinsonism
Frontotemporal Lobar Dementia, Ubiquitin-Positive
Fuchs Endothelial Corneal Dystrophy, Polymorphous Posterior
Fucosidosis
Fucosyltransferase-6 Deficiency
Fumarylacetoacetase Pseudodeficiency
Galactosemia
Galactosialidosis, Adult, Japanese Type
Galactosialidosis, Late Infantile
Gangliosidosis GM1
Gangliosidosis GM1, Late Infantile/Juvenile Type
Gaucher Disease, Type I
Gaucher Disease, Type II
Gaucher Disease, Type II, Perinatal Lethal Form
Gaucher Disease, Type III
Gaucher Disease, Type IIIC
Gelatinous Drop-like Corneal Dystrophy
Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Idiopathic Epilepsy Episodic Ataxia, Type 5
Gerstmann-Straeussler Syndrome
Giant Axonal Neuropathy
Gilbert Syndrome
Gitelman Syndrome
Glanzmann Thrombasthenia
Glaucoma, Primary Congenital
Glaucoma 1, Open Angle, E
Glaucoma 1, Open Angle, E, Glaucoma, Normal Tension
Glaucoma 1A, Open Angle
Glaucoma 1A, Primary Open Angle
Glaucoma 1A, Primary Open Angle, Digenic
Glaucoma 3A, Primary Congenital, Digenic
Glucocorticoid Deficiency
Glucose-6-phosphate Dehydrogenase Deficiency
Glutamate Formiminotransferase Deficiency
Glycine N-methyltransferase Deficiency
Glycogen Storage Disease, Type 0
Glycogen Storage Disease, Type Ia
Glycogen Storage Disease, Type Ib
Glycogen Storage Disease, Type II
Glycogen Storage Disease, Type II, Adult Form
Glycogen Storage Disease, Type II, Infantile Form
Glycogen Storage Disease, Type IIIa
Glycogen Storage Disease, Type IV, Classic Hepatic
Glycogen Storage Disease, Type IV, Childhood Neuromuscular
Glycogen Storage Disease, Type IV, Nonprogressive Hepatic
Glycogen Storage Disease, Type VI
Glycogen Storage Disease, Type VII
GM1-Gangliosidosis, Adult/Chronic Type
GM2-Gangliosidosis, Adult
Goiter, Familial, with Hypothyroidism
Goiter, Nonendemic Simple
Gout, HPRT-related
GRACILE Syndrome
Greater Agonists Promoted Contractility
Greig Cephalopolysyndactyly Syndrome
Griscelli Syndrome, Type 2
Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated
Growth Hormone Deficiency, Isolated, Type 2
Growth Retardation due to IGF1R
Gyrate Atrophy
Gyrate Atrophy with Pyridoxine-responsive Ornithinemia
Haemoglobin H Disease
Haemorrhagic Telangiectasia 1
Hailey-Hailey Disease
Haim-Munk Syndrome
Harderoporphyria
Harlequin Ichthyosis
HARP Syndrome
Hartnup Disorder
Hawkinsinsuria
Hearing Impairment, Nonsyndromic Sensorineural
Hemochromatosis
Hemochromatosis, Type 2A
Hemochromatosis, Type 3
Hemochromatosis, Type 4
Hemolytic Anemia
Hemolytic Anemia due to Adenylate Kinase Deficiency
Hemolytic Anemia due to Glutathione Synthetase Deficiency of Erythrocytes
Hemolytic Anemia due to Triosephosphate Isomerase Deficiency
Hemolytic Anemia, Rh-Null, Regulator Type
Hemolytic Uremic Syndrome
Hemophagocytic Lymphohistiocytosis, Familial
Hemophilia A
Hemophilia B
Hemophilia B, Leyden
Hemophilia B, Brandenburg
Hemorrhagic Diathesis due to Antithrombin Pittsburgh
Heparin Cofactor II Deficiency
Hepatic Lipase Deficiency
Hereditary Angioedema, Type II
Hereditary Haemorrhagic Telangiectasia, Type 2
Hereditary Hypophosphatemic Rickets with Hypercalciuria
Hereditary Myopathy with Early Respiratory Failure
Hereditary Nonpolyposis Colorectal Cancer, Type 1
Hereditary Nonpolyposis Colorectal Cancer, Type 2
Hereditary Nonpolyposis Colorectal Cancer, Type 5
Hereditary Nonpolyposis Colorectal Cancer, Type 7
Hereditary Nonployposis Colorectal Cancer, Type 9
Hereditary Nonployposis Colorectal Cancer, Type 10
Hereditary Persistence of Fetal Hemoglobin
Hermansky-Pudlak Syndrome
Heterotaxy
Hidrotic Ectodermal Dysplasia
High Myopia
Hirschsprung Disease
Hirschsprung Disease, Congenital Hypoventilation Syndrome
Hirschsprung Disease, Waardenburg-Shah Syndrome
HLA Class I Deficiency
HMG-CoA Lyase Deficiency
HMG-CoA Synthase Deficiency
Holocarboxylase Synthetase Deficiency
Holoprosencephaly 2
Holoprosencephaly 3
Holoprosencephaly 5
Holoprosencephaly 7
Holoprosencephaly 9
Homocystinuria
Hurler Syndrome
Hutchinson-Gilford Progeria Syndrome, Restrictive Dermatopathy, Lethal
Hydatidiform Mole, Recurrent
Hydrocephalus, X-linked
Hyperbilirubinemia, Transient Familial Neonatal
Hypercholanemia, Familial
Hypercholesterolemia, Familial
Hyperekplexia
Hyperglycerolemia
Hyperglycinemia, Non-ketotic Glycine Encephalopathy
Hypergonadotrophic Hypogonadism, Female
Hyperhomocysteinemia due to MTHFR Deficiency, Folate Responsive
Hyper-IgD Syndrome
Hyper-IgE Syndrome
Hyperinsulinism-hyperammonemia Syndrome
Hyperkalaemic Periodic Paralysis, Paramyotonia Congenita
Hyperlipidemia, Familial Combined
Hyperornithinemia-hyperammonemia-homocitrullinemia Syndrome
Hyperostosis-Hyperphosphatemia Syndrome
Hyperphenylalaninemia
Hyperphenylalaninemia, Non-PKU
Hyperproinsulinaemia, Familial
Hyperprolinemia, Type 1 Schizophrenia
Hypertriglyceridemia, Hereditary
Hypocalciuric Hypercalcaemia, Familial, Hypoparathyrodism, Familial Isolated
Hypocholesterolaemia
Hypocholinesterasaemia
Hypochondroplasia
Hypogammaglobulinemia
Hypoglycaemia, Persistent Hyperinsulinaemic
Hypoglycemia
Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism, Fertile Eunuch Syndrome
Hypokalaemic Periodic Paralysis
Hypomagnesaemia with Secondary Hypocalcaemia
Hypomagnesaemia, Primary
Hypomagnesaemia, Renal
Hypoparathyroidism, Familial Isolated
Hypoparathyroidism, Familial Isolated, Hypocalemia with Bartter Syndrome
Hypoparathyroidism-retardation-dysmorphism Syndrome
Hypophosphatasia, Infantile
Hypophosphatasia, Infantile, Mild
Hypophosphatemia
Hypophosphatemic Rickets
Hypoplastic Left Heart Syndrome, Atrioventricular Septal Defect
Hypothyroidism, Thyroid Hormonogenesis, Genetic Defect in
Hypothyroidism, Congenital, Nongoitrous
Hypotrichosis
Hypotrichosis Simplex
Hypotrichosis Simplex of Scalp
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
Hystrix-Like Ichthyosis with Deafness, Keratitis-ichthyosis-deafness Syndrome
Ichthyosis Vulgaris
Ichthyosis with Hypotrichosis
Ichthyosis, Harlequin
Ichthyosis, Lamellar
Idiopathic Infantile Nystagmus
Idiopathic Pulmonary Fibrosis
Idiopathic Restrictive Cardiomyopathy
Immunodeficiency with Hyper-IgM, Type 2
Immunodeficiency with Hyper-IgM, Type 3
Immunodeficiency with Hyper-IgM, Type 5
Immunologically Anomalous Variant
Inclusion Body Myopathy
Infantile Nephronophthisis
Intrahepatic Cholestasis of Pregnancy
Intrahepatic Cholestasis, Familial Progressive 2
Intrauterine and Postnatal Growth Retardation (Short Stature)
Iodide Transport Defect, Thyroid Hormonogenesis, Genetic Defect in
IPEX syndrome
Iris Flocculi
Isolated Lissencephaly Sequence
Isolated Partial Atrioventricular Septal Defect
Isovaleric Acidemia
ITPase Deficiency
Jervell and Lange-Nielsen Syndrome
JK-Null Variant, Finnish Type
Joubert Syndrome
Joubert Syndrome 2
Joubert Syndrome 3
Joubert Syndrome, Leber Congenital Amaurosis, Type X
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Kallmann Syndrome
Kallmann Syndrome 2
Kartagener Syndrome
Hemolytic Disease of the Newborn due to Anti-K
Keratitis-ichthyosis-deafness Syndrome
Keratoderma, palmoplantar
Keratoderma, Palmoplantar, with Deafness, Nonsyndromic Sensorineural
Knuckle pads, Leukonychia, Sensorineural Deafness
Kowarski Syndrome
Larsen Syndrome
Late Infantile Metachromatic Leukodystrophy
Lateral Temporal Lobe Epilepsy
Lead Poisoning, Increased Susceptibility to
Leber Congenital Amaurosis, Type I
Leber Congenital Amaurosis, Type III
Leber Congenital Amaurosis, Type VI
Leber Congenital Amaurosis, Type VII
Leber Congenital Amaurosis, Type X
Leber Hereditary Optic Neuropathy
Leber Hereditary Optic Neuropathy, Severe
Leber Optic Atrophy
Leigh Syndrome
Leigh Syndrome due to Mitochondrial Complex I Deficiency
Leigh Syndrome, French-Canadian Type
Leiomyomatosis and Renal Cell Cancer
Leprechaunism
Lesch-Nyhan Syndrome
Lethal Arthrogryposis with Anterior Horn Cell Disease
Lethal Congenital Contracture Syndrome
Lethal Contractural Syndrome, Type 3
Leukocyte Adhesion Deficiency
Leukoencephalopathy with Vanishing White Matter
Leukoencephalopathy with Vanishing White Matter, Ovarioleukodystrophy
Leydig Cell Hypoplasia with Male Pseudohermaphroditism
Liddle Syndrome
Li-Fraumeni Syndrome
Lipodystrophy with Diabetes
Lipodystrophy, Familial Partial, Type II (Dunnigan)
Lipoprotein Lipase Deficiency
Lissencephaly, Subcortical Laminar Heterotopia
Liver Glycogenosis, Type I
Liver Glycogenosis, Type II
Lujan-Fryns Syndrome
Lymphangioleiomyomatosis
Lymphoedema, Hereditary
Lymphoedema-distichiasis Syndrome
Macrocephaly/Autism Syndrome
Macular Degeneration, Juvenile
Macular Dystrophy
Macular Dystrophy, Best
Macular Dystrophy, Vitelliform
Majeed Syndrome
Mal de Meleda
Malignant Hyperthermia
Malonyl-CoA Decarboxylase Deficiency
Mannose-binding Protein Deficiency
Maple Syrup Urine Disease, Type IA
Maple Syrup Urine Disease, Type IB
Maple Syrup Urine Disease, Type II, Thiamine-response
Maple Syrup Urine Disease, Type III
Marfan Syndrome
Marfan Syndrome, Atypical
Marfan Syndrome, Neonatal
Marfan Syndrome, Severe Classic
Marfan Syndrome, Type II
Marfanoid Skeletal Syndrome
MASA syndrome
Mast Cell Leukemia
Mastocytosis, Sporadic, Childhood-onset
Maturity-onset Diabetes of the Young, Type III
Maximum Parasitemia, Mild Malaria Attack
May-Hegglin Anomaly
McArdle Disease
McCune-Albright Syndrome
McKusick-Kaufman Syndrome
Meckel Syndrome
Meckel Syndrome, Type 3
Mediterranean Macrothrombocytopenia
Medium Chain Acyl CoA Dehydrogenase Deficiency
Meesmann Corneal Dystrophy
Megablastic Anemia, Norwegian
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Megaloblastic Anemia, Finnish Type
Megaloblastic Anemia, Thiamine-Responsive
MELAS Syndrome
Melnick-Needles syndrome
Membranoproliferative Glomerulonephritis, Type II and Dense Deposit Disease
Meningioma, Li-Fraumeni Syndrome
Menkes Disease, Mild
MERRF Syndrome
MERRF/MELAS Overlap Syndrome
Metachromatic Leukodystrophy, Atypical
Metachromatic Leukodystrophy, Adult
Metachromatic Leukodystrophy, Juvenile
Metaphyseal Dysplasia without Hypotrichosis
Methionine Synthase Reductase Deficiency
Methylmalonic Aciduria, cblB type
Methylmalonic Aciduria and Homocystinuria, cblC Type
Methylmalonic Aciduria, mut(0) Type
Mevalonic Aciduria
Microhaematuria and Protinuria
Microphallus
Microphthalmia with Associated Anomalies
Microphthalmia, Posterior, with Retinitis Pigmentosa, Foveoschisis and Optic Disc Drusen
Migraine, Familial Hemiplegic
Migraine, Familial Hemiplegic with Progressive Cerebellar Ataxia
Migraine, Sporadic Hemiplegic with Progressive Cerebellar Ataxia
Mitochondrial Complex 1 Deficiency
Mitochondrial Cytochrome c Oxidase Deficiency
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
Mitochondrial Myopathy and Sideroblastic Anemia
Mitochondrial Neurogastrointestinal Encephalopathy
Mitochondrial Neurogastrointestinal Encephalopathy without Leukoencephalopathy
Miyoshi Myopathy
ML / LEOPARD Syndrome
Monilethrix
Mucolipidosis, Type II
Mucolipidosis, Type II, Alpha/Beta
Mucolipidosis, Type III
Mucolipidosis, Type III, Alpha/Beta
Mucolipidosis, Type III, Gamma
Mucolipidosis, Type IIIC
Mucolipidosis, Type IV
Mucopolysaccharidosis, Type II, Severe Form
Mucopolysaccharidosis, Type IVA
Mucopolysaccharidosis, Type IVA, Mild
Mucopolysaccharidosis, Type VI
Multi-minicore Disease
Multiple Acyl-CoA Dehydrogenase Deficiency
Multiple Carboxylase Deficiency, Biotin-responsive
Multiple Cutaneous and Uterine Leiomyomata
Multiple Diastrophic Dysplasia
Multiple Endocrine Neoplasia, Type I
Multiple Endocrine Neoplasia, Type I, Burin Variant, Prolactinoma, Hyperparathyroid, Carcinoid Syndrome
Multiple Endocrine Neoplasia, Type IIA, Pheochromocytoma
Multiple Endocrine Neoplasia, Type IV
Multiple Epiphyseal Dysplasia
Muscle Weakness, Atrial Fibrilation, Hypertriglyceridaemia
Muscle-eye-brain Disease
Muscle-eye-brain Like Disease
Muscular Dystrophy, Becker
Muscular Dystrophy, Duchenne
Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Limb Girdle, Type 1A, Myotilinopathy
Muscular Dystrophy, Limb Girdle, Type 1B
Muscular Dystrophy, Limb Girdle, Type 1C
Muscular Dystrophy, Limb Girdle, Type 2B
Muscular Dystrophy, Limb Girdle, Type 2D
Muscular Dystrophy, Limb Girdle, Type 2E
Muscular Dystrophy, Limb Girdle, Type 2I
Muscular Dystrophy, Limb Girdle, Type 2K
Muscular Dystrophy, Merosin Deficient
Myasthenic Syndrome
Myeloperoxidase Deficiency
Myoclonus-Dystonia Syndrome
Myofibrillar Myopathy, ZASP related
Myopathy
Myopathy due to Muscle Phosphoglycerate Mutase Deficiency
Myopathy, Desmin related
Myopathy, Distal, with Rimmed Vacuoles
Myopathy, Early-onset and Progeria
Myopathy, Mitochondrial, Late-onset
Myopathy, Mitochondrial, with Diabetes Mellitus
Myopathy, Variable, Inducable with Anesthesia
Myotilinopathy
Myotonia Fluctuans
Nail-Patella Syndrome
Naxos Disease
Nemaline Myopathy
Neonatal Adrenoleukodystrophy
Neonatal Alloimmune Thrombocytopenic Purpura, Posttransfusion Purpura
Neonatal Death, Leigh Syndrome
Nephrolithiasis, Hypercalciuric
Nephronophthisis
Nephronophthisis 1
Nephronophthisis, Familial Juvenile
Nephrotic Syndrome, Steroid Resistant
Netherton Syndrome
Neural Tube Defects
Neuroblastoma
Neurofibromatosis, Type I
Neurofibromatosis 1–like Phenotype
Neurofibromatosis, Type II
Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis, Late Infantile
Neuropathy, Axonal, with Vocal Cord Paresis
Neuropathy, Axonal, Distal Hereditary Motor, Type IIB
Neuropathy, Distal Hereditary Motor, Type V
Neuropathy, Hereditary Sensory, Type I
Neuropathy, Hereditary Sensory, Type II
Neuropathy, Hereditary Sensory and Autonomic, Type V, Loss of Pain & Temperature Perception
Neuropathy with Liability to Pressure Palsies
Neutropenia, Congenital
Neutropenia, Cyclic
Neutropenia, Nonimmune Chronic Idiopathic, of Adults
Neutropenia, Severe Congenital
Nevus, Epidermal, Epidermolytic Hyerkeratotic Type
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C2
Niemann-Pick Disease, Variant Type C1
Nijmegen Breakage Syndrome
Nocturnal Frontal Lobe Epilepsy, Type 4, with Nocturnal Wandering and Ictal Fear
Noncompaction, Left Ventricular, associated with Congenital Heart Defects
Noncompaction, Left Ventricular, Isolated
Noncompaction, Left Ventricular Myocardium, Familial Isolated
Non-heterotaxy Cardiac Malformation
Nonsyndromic Hearing Impairment
Noonan Syndrome
Noonan Syndrome 3
Noonan Syndrome, LEOPARD Syndrome
Normal Tension Glaucoma
Norrie Disease
Nucleoside Phosphorylase Deficiency
Obesity, Hyperphagia, and Developmental Delay
Obesity, Severe
Obesity, Morbid, with Hypogonadism
Occlusive Cerebrovascular Disease
Oculofaciocardiodental Syndrome
Odontoonychodermal Dysplasia
Omenn Syndrome
Ophthalmoplegia, Progressive External with Hypogonadism
Opitz-Kaveggia Syndrome
Optic Atrophy 1
Optic Atrophy 1 with Deafness
Optic Atrophy, Deafness, Opthalmoplegia, and Myopathy
Optic Atrophy and Cataract
Ornithine Transcarbamylase Deficiency
Osteogenesis Imperfecta, Type I
Osteogenesis Imperfecta, Type II
Osteogenesis Imperfecta, Type III
Osteogenesis Imperfecta, Type IV
Osteogenesis Imperfecta/Ehlers-Danlos Crossover Syndrome
Osteopetrosis
Osteopetrosis, Type 2
Osteoporosis-pseudoglioma Syndrome
Otopalatodigital Syndrome 2
Pachyonychia Congenita, Type 1
Pachyonychia Congenita, Type 2
Palmoplantar Keratoderma, Epidermolytic
Pancreatitis, Chronic
Pantothenate Kinase-associated Neurodegeneration, Atypical Pantothenate Kinase-associated Neurodegeneration
PAPA syndrome
Papillon-Lefevre Syndrome
Paragangliomas, Phaeochromocytoma
Paramyotonia congenital
Parkinson Disease
Parkinson Disease, Early-onset
Parkinsonism, Juvenile, Autosomal Recessive
Paroxysmal Extreme Pain Disorder
Partial Atrioventricular Septal Defect and Heterotaxy Syndrome
Peeling Skin Syndrome
Pelizaeus-Merzbacher Disease, Mild
Pendred Syndrome
Periodic Fever, Autosomal Dominant
Periodontitis, Juvenile
Periventricular Heterotopia with Microcephaly
Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder, Complementation Group 3
Peroxisome Biogenesis Disorder, Complementation Group 8
Peroxisome Biogenesis Disorder, Complementation Group 9
Persistence of Fetal Hemoglobin
Peters’ Anomaly
Peutz-Jeghers Syndrome
Pfeiffer Syndrome, Jackson-Weiss Syndrome
Pfeiffer Syndrome, Type III
Phenylketonuria
Pheochromocytoma
Phosphoserine Phosphatase Deficiency
Piebaldism with Sensorineural Deafness
Pigmentary Retinopathy and Sensorineural Deafness
Pigmented Nodular Adrenocortical Disease, Primary
Pigmented Paravenous Chorioretinal Atrophy
Pitt-Hopkins Syndrome
Placental Aromatase deficiency
Platelet Glycoprotein IV Deficiency
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
Polycythemia Vera
Polycythemia, Chuvash Type
Polymicrogyria, Bilateral Frontoparietal
POR Deficiency
Porphyria Cutanea Tarda
Porphyria, Acute Hepatic, Delta-aminolevulinate Dehydratase Porphyria
Porphyria, Acute Intermittent
Porphyria, Acute Intermittent, Nonerythroid Variant
Porphyria, Hepatoerythropoietic
Porphyria, Variegate
Postanesthetic Apnea
Posterior Polymorphons Corneal Dystrophy 1
Prealbumin Chicago, Euthyroid Dystransthyretinemic Hyperthyroxinemia
Precocious Puberty, Male-Limited
Premature Ovarian Failure
Primary Congenital Glaucoma
Primary Spontaneous Pneumothorax
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Type 2
Progressive Familial Intrahepatic Cholestasis, Benign Recurrent Intrahepatic Cholestasis
Progressive Supranuclear Palsy
Progressive Supranuclear Palsy, Parkinson Disease
Prolonged Bleeding Time due to Plasminogen Activator Inhibitor 1 Deficiency
Properdin Deficiency, Type I
Properdin Deficiency, Type II
Propionic Acidemia
Protoporphyria, Erythropoietic
Pseudoachondroplasia
Pseudohermaphroditism, Leydig Cell Hypoplasia
Pseudohermaphroditism, Male
Pseudohypoaldosteronism, Type 1
Pseudohypoparathyroidism 1a, with Testotoxicosis
Pseudorheumatoid Dysplasia, Progressive
Pseudovaginal Perineoscrotal Hypospadias
Pseudoxanthoma Elasticum
Pulmonary Arterial Hypertension, Primary, Dexfenfluramine-associated
Pulmonary Hypertension, Primary
Pulmonary Surfactant Metabolism Dysfunction, Type 2, Respiratory Insufficiency, Infantile-onset Progressive
Pulmonary Toxicity when Exposed to Thioureas
Pycnodysostosis
Pyridoxine Responsive Homocystinuria
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase E1-alpha Deficiency
Pyruvate Dehydrogenase E1-beta Deficiency
Pyruvate Kinase Deficiency
Pyruvate Kinase Deficiency, Amish Type
RAPADILINO Syndrome
Refsum Disease
Refsum Disease, Infantile Form
Reifenstein Syndrome
Renal Glucosuria
Renal Tubular Dysgenesis
Restrictive Cardiomyopathy
Retinal Degeneration in Ciliopathies
Retinal Degeneration with Early Macular Involvement
Retinitis Pigmentosa
Retinitis Pigmentosa 1
Retinitis Pigmentosa 2
Retinitis Pigmentosa 4
Retinitis Pigmentosa 19
Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy
Retinitis Pigmentosa without Hearing Loss
Retinitis Pigmentosa, Digenic
Retinitis Pigmentosa, Late-onset
Retinitis Punctata Albescens
Retinitis Punctata Albescens, Newfoundland Rod-cone Dystrophy
Retinoblastoma
Retinoblastoma, Incomplete Penetrance Type
Rheumatoid Arthritis, Juvenile, Systemic Onset
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelic Chondrodysplasia Punctata, Type 3
Rickets, Vitamin D-dependent, Type I
Rickets, Vitamin D-dependent, Type II
Rickets, Vitamin D-resistant, Type I
Ring Dermoid of the Cornea
Rippling Muscle Disease 2
Robinow Syndrome
Rod Monochromacy
Romano-Ward Syndrome
Rothmund-Thomson Syndrome
Roussy-Levy Syndrome
Rubinstein-Taybi Syndrome
Saddan Dysplasia
Salt-Wasting Congenital Adrenal Hyperplasia
Sandhoff Disease, Infantile Type
Scheie Syndrome
Schnyder Crystalline Corneal Dystrophy
Schwannomatosis
Scott Syndrome
Seckel Syndrome
Segawa Syndrome
Senile Amyloidosis Inclusion Body Myositis
Senior-Loken Syndrome
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis
Severe Combined Immunodeficiency (SCID), Athabascan-Type
Severe Combined Immunodeficiency (SCID), B Cell-negative
Severe Combined Immunodeficiency (SCID), B Cell-negative, T Cell-negative, NK Cell-negative
Severe Combined Immunodeficiency (SCID), B Cell-positive T Cell-negative, NK Cell-positive
Severe Metachromatic Leukodystrophy
Shah-Waardenburg Syndrome
Short Chain Acyl-CoA-dehydrogenase Deficiency
Shwachman-Diamond Syndrome
Sialidosis, Type II
Sialuria
Sickle Cell Disease (Sickle Cell Anemia)
Sickle Cell Trait
Sideroblastic Anemia and Spinocerebellar Ataxia
Sideroblastic Anemia, Hereditary
Simple Virilizing Congenital Adrenal Hyperplasia
Simpson-Golabi-Behmel Syndrome
Sinus Bradycardia Syndrome, Familial
Sinus Node Disease
Sitosterolemia
Sjogren-Larsson Syndrome
Skeleton-Skin-Brain Syndrome
Skin Fragility-Woolly Hair Syndrome
Small Patella Syndrome
Smith-Lemli-Opitz Syndrome
Spastic Paralysis, Infantile-onset
Spastic Paraplegia
Spastic Paraplegia 3
Spastic Paraplegia 10
Spastic Paraplegia, Autosomal Dominant
Spherocytosis, Hereditary
Spherocytosis, Hereditary, due to Protein 4.2-Notame
Spherocytosis, Hereditary, Japanese Type
Spinal Muscular Atrophy, Distal, Childhood-onset
Spinal Muscular Atrophy, Type I
Spondyloepiphyseal Dysplasia Tarda
Spondyloepiphyseal Dysplasia Tarda and Arthropathy
Spondyloepiphyseal Dysplasia, Omani Type
Spongiform Encephalopathy with Neuropsychiatric Features
Stargardt Disease
Stargardt Disease, Cone-rod Dystrophy 3
Stargardt Disease, Mild
Steroid-5 Alpha-reductase Deficiency
Stiff Skin Syndrome
Subcortical Laminar Heterotopia/Pachygyria
Superoxide Dismutase, Elevated Extracellular
Supravalvular Aortic Stenosis
Symphalangism
Symphalangism, Proximal
Symphalangism, Type 1
Synpolydactyly 1
Tangier Disease
Tarsal-Carpal Coalition Syndrome
Tay-Sachs Disease
Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, B1 Variant
Thalassemia Beta
Thalassemia Beta-Plus
Thalassemia Delta
Thanatophoric Dysplasia, Type I
Thanatophoric Dysplasia, Type II
Thin Basement Membrane Disease
Thoracic Aortic Aneurysm and Dissection
Thrombocythemia, Essential
Thrombocytopenia
Thrombocytopenia 1
Thrombocytopenia with associated Acute Myeloid Leukemia
Thrombocytosis
Thrombophilia due to Heparin Cofactor II Deficiency
Thrombophilia due to Plasminogen Deficiency
Thrombotic Thrombocytopenic Purpura, Congenital
Thyroid Hormone Resistance, Generalized
Thyroxine-binding Globulin Deficiency, Partial
Thyroxine-binding Globulin Deficiency, Slow
Tibial Muscular Dystrophy, Tardive
Timothy Syndome
Tolbutamide Poor Metabolizer
Total Iodide Organification Defect
Tourette Syndrome
Tourette Syndrome Facial Tic
TPMT Deficiency
Transcobalamin II Deficiency
Transient Bullous Dermolysis of the Newborn
Transposition of the Great Arteries, Dextro-looped
Treacher-Collins Syndrome
Trichorhinophalangeal Syndrome, Type I
Trichothiodystrophy Xeroderma Pigmentosum, Group D
Trichotillomania
Trigonocephaly Antley-Bixler Syndrome
Trimethylaminuria
Troyer Syndrome
Tuberculoid Leprosy versus Lepromatous Leprosy
Tuberous Sclerosis
Tumoral Calcinosis, Hyperphasphatemic
Tyrosinemia, Type I
Tyrosinemia, Type II
Tyrosinemia, Type III
Unna-Thost Disease
Urea Transport Defect JK-Null Variant
Usher Syndrome, Type 1B
Usher Syndrome, Type 1C
Usher Syndrome, Type 1D
Usher Syndrome, Type 1F
Usher Syndrome, Type 1G
Usher Syndrome, Type 2A
Usher Syndrome, Type 2C
Usher Syndrome, Type 3
UV-sensitive Syndrome
Vohwinkel Syndrome
Von Hippel-Lindau syndrome
Von Willebrand Disease, Type I
Von Willebrand Disease, Type IIB
Von Willebrand Disease, Type IIM
Von Willebrand Disease, Type III
Waardenburg Syndrome, Type IIA
Waardenburg Syndrome, Type III
Waardenburg Syndrome, Type IVA
Walker-Warburg Syndrome
Werner Syndrome
Werner Syndrome, Atypical
WHIM Syndrome
Wilson Disease
Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome, Attenuated
Wolff-Parkinson-White Syndrome, Hereditary
Wolman Disease
Xanthinuria, Type I
Xeroderma Pigmentosum, Complementation Group C
Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group E
Xeroderma Pigmentosum, Complementation Group G
XRCC3 Deficiency
XY Sex Reversal with Adrenal Insufficiency
XY Sex Reversal without Adrenal Insufficiency
Zellweger Syndrome
Zellweger Syndrome, Complementation Group G

Protection from Genetic Diseases

Screening tests are safe and reliable. They should be done before conception but ⁠genetic testing during pregnancy can be performed. Newborn screening can include genetic testing as well, so consider this if you’re a new parent.

Presymptomatic testing gives you a chance to prevent a disease rather than treat it after it develops. While genetic testing does not predict diseases because environmental factors affect the development of diseases, it is an effective way to protect against them.

Let’s continue our discussion about genetic diseases by learning about a very important part of disease screening called carrier screening or prenatal genetic screening.

About the Author

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of Sequencing.com and the author of Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠ACMG), an Associate of the American College of Preventive Medicine (⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC).