Answers To Questions

FAQ

What is expanded carrier screening?

Every one of us is a carrier for approximately 6 changed genes that, if inherited in a double dose, could cause a genetic disorder in our children. These disorders are rare and usually there is no family history, although certain disorders are more common in certain ethnic groups. For most of these conditions, both parents have to be carriers for their children to be at risk (these are called autosomal recessive disorders). Others are inherited from a mother who is a carrier (these are called X-linked disorders) and mainly affect boys. Testing to see if you or your partner are carriers for genetic disorders is your choice, but this is testing that is usually offered to all women who are thinking about becoming pregnant, or who are already pregnant. Expanded carrier screening offers testing for many of the most common genetic disorders.

Who should have the expanded carrier screening?

Anyone who is pregnant or planning a pregnancy can have expanded carrier screening.

When should I have expanded carrier screening?

Many couples consider having carrier screening before they become pregnant. If they are found to be at risk to have a child with a genetic disorder, they could choose to use invitro fertilization, test the embryos for the disorder, and only transfer embryos predicted to be unaffected. If a woman is already pregnant, she and her partner can have expanded carrier screening at any time. Most couples are found to be at decreased risk to have a child with a serious genetic disorder. Couples who are at increased risk have the opportunity to learn about the condition and plan the care of the pregnancy.

What are the benefits of having expanded carrier screening?

It can help you and your partner learn about the chance to have a child with a genetic disease before or during pregnancy. Many people do not know they are a carrier for an inherited genetic disease until they have an affected child. While there is no test that can screen for all possible genetic diseases or birth defects, genetic carrier screening can give you information to make reproductive choices that are right for you and your family.

What if I have a family history of genetic disease?

It is important to tell your healthcare provider about your family history. They may suggest you meet with a genetic counselor to review your history and discuss options for further testing. A Horizon carrier screen may be suggested as one way to see if your family history is a risk factor for your children.

What is the chance I could have an affected child if I am a carrier?

If you and your partner are both carriers for the same recessive genetic disease, you have a 1 in 4, or 25%, chance of having an affected child in each pregnancy. If a woman is a carrier of an X-linked disease, she has up to a 50% chance of having an affected child in each pregnancy.

Who can I talk to about my expanded carrier screening results?

We offer a complementary telephone consultation by certified genetic counselors. Please or email us to schedule an appointment.

What genetic conditions does the expanded carrier screen test for?

The Expanded Carrier Screen tests for XXX inherited conditions, including cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. To view a full list of the conditions this test screens for, please see the Expanded Carrier Screen page on our website.

When will my results be ready?

Your Expanded Carrier Screen results will be ready in approximately 4 weeks.

Diseases Included In Genetic Screening

Wednesday August 1st, 2018 in Diseases

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

What is 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency? 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a rare disorder that results…
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Tuesday March 20th, 2018 in Diseases

ABCC8-Related Hyperinsulinism

What is ABCC8-related Hyperinsulinism? ABCC8-related hyperinsulinism, also called congenital hyperinsulinism, is an inherited condition in…
Read More
Sunday April 15th, 2018 in Diseases

Achromatopsia 3

What is Achromatopsia, CNGB3-Related? Achromatopsia, CNGB3-Related is an autosomal recessive condition that causes partial or…
Read More
Tuesday March 20th, 2018 in Diseases

Adenosine Deaminase Deficiency

What is Adenosine Deaminase Deficiency? Adenosine deaminase (ADA) deficiency is a metabolic disease that affects…
Read More
Sunday April 15th, 2018 in Diseases

Alkaptonuria

Alkaptonuria is a rare inborn error of metabolism that results in the accumulation of the…
Read More
Tuesday March 20th, 2018 in Diseases

Alpha Thalassemia

What is Alpha Thalassemia? Alpha thalassemia is a blood disorder that affects hemoglobin, a major…
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Tuesday March 20th, 2018 in Diseases

Alpha-Mannosidosis

What is Alpha-Mannosidosis? Alpha-mannosidosis is an inherited genetic disease that can cause many different health…
Read More
Tuesday March 20th, 2018 in Diseases

Alpha-Sarcoglycanopathy

What is Alpha-Sarcoglycanopathy? Alpha-sarcoglycanopathy, also known as limb-girdle muscular dystrophy type 2D (LGMD2D), is an…
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Tuesday March 20th, 2018 in Diseases

Andermann Syndrome

What is Andermann Syndrome? Andermann syndrome, also called agenesis of corpus callosum with peripheral neuropathy,…
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Tuesday March 20th, 2018 in Diseases

Ataxia With Vitamin E Deficiency

What is Ataxia With Vitamin E Deficiency? Ataxia with vitamin E deficiency (AVED) is an…
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Tuesday March 20th, 2018 in Diseases

Ataxia-Telangiectasia

What is Ataxia-Telangiectasia? Ataxia-telangiectasia (A-T) is an inherited disease which affects a person’s ability to…
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Tuesday March 20th, 2018 in Diseases

Bardet-Biedl Syndrome, BBS1-Related

What is Bardet-Biedl Syndrome, BBS1-related? Bardet-Biedl syndrome is an inherited disease that causes vision problems,…
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Tuesday March 20th, 2018 in Diseases

Bardet-Biedl Syndrome, BBS10-Related

What is Bardet-Biedl Syndrome, BBS10-related? Bardet-Biedl syndrome is an inherited disease that causes vision problems,…
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Tuesday March 20th, 2018 in Diseases

Bardet-Biedl Syndrome, BBS2-Related

What is Bardet-Biedl Syndrome, BBS2-related? Bardet-Biedl syndrome (BBS) is an inherited disease that generally causes…
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Tuesday March 20th, 2018 in Diseases

Beta-Sarcoglycanopathy

What is Beta-Sarcoglycanopathy? Beta-sarcoglycanopathy, also known as limb-girdle muscular dystrophy type 2E (LGMD2E), typically causes…
Read More
Tuesday March 20th, 2018 in Diseases

Biotinidase Deficiency

What is Biotinidase Deficiency? Biotinidase deficiency is a highly-treatable inherited disease in which the body…
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Tuesday March 20th, 2018 in Diseases

Bloom Syndrome

What Is Bloom Syndrome? Bloom syndrome is an inherited disease that causes a person's chromosomes…
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Tuesday March 20th, 2018 in Diseases

Canavan Disease

What is Canavan Disease? Canavan disease is an inherited disorder that destroys the myelin sheath,…
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Tuesday March 20th, 2018 in Diseases

Carnitine Palmitoyltransferase IA Deficiency

What is Carnitine Palmitoyltransferase IA Deficiency? Carnitine palmitoyltransferase IA deficiency (CPT1A deficiency) is an inherited…
Read More
Tuesday March 20th, 2018 in Diseases

Carnitine Palmitoyltransferase II Deficiency

What is Carnitine Palmitoyltransferase II Deficiency? Carnitine palmitoyltransferase II deficiency (CPT II deficiency) is an…
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Tuesday March 20th, 2018 in Diseases

Cerebrotendinous Xanthomatosis

What is Cerebrotendinous Xanthomatosis? Cerebrotendinous xanthomatosis (CTX) is a disease that leads to increased storage…
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Sunday April 15th, 2018 in Diseases

Choroideremia

Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first…
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Tuesday March 20th, 2018 in Diseases

Citrullinemia Type 1

What is Citrullinemia Type 1? Citrullinemia type I is a disease in which ammonia and…
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Tuesday March 20th, 2018 in Diseases

CLN3-Related Neuronal Ceroid Lipofuscinosis

What is CLN3-related Neuronal Ceroid Lipofuscinosis? CLN3-related neuronal ceroid lipofuscinosis (also known as Batten disease)…
Read More
Tuesday March 20th, 2018 in Diseases

CLN5-Related Neuronal Ceroid Lipofuscinosis

What is CLN5-related Neuronal Ceroid Lipofuscinosis? CLN5-related neuronal ceroid lipofusciosis (NCL) is an inherited disease…
Read More
Tuesday March 20th, 2018 in Diseases

CLN6-Related Neuronal Ceroid Lipofuscinosis

What is CLN6-related Neuronal Ceroid Lipofuscinosis? CLN6-related neuronal ceroid lipofuscinosis (NCL6) is an inherited disease…
Read More
Tuesday March 20th, 2018 in Diseases

Cohen Syndrome

What is Cohen Syndrome? Cohen syndrome, also known as Pepper syndrome, is a genetic disorder…
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Tuesday March 20th, 2018 in Diseases

COL4A3-Related Alport Syndrome

What is COL4A3-related Alport Syndrome? Alport syndrome is a genetic condition characterized by progressive kidney…
Read More
Tuesday March 20th, 2018 in Diseases

COL4A4-Related Alport Syndrome

What is COL4A4-related Alport Syndrome? Alport syndrome is a genetic condition characterized by progressive kidney…
Read More
Wednesday August 1st, 2018 in Diseases

Congenital Adrenal Hyperplasia

What is 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia? Congenital adrenal hyperplasia (CAH) refers to a group of…
Read More
Tuesday March 20th, 2018 in Diseases

Congenital Disorder Of Glycosylation Type Ia

What is Congenital Disorder of Glycosylation Type Ia? Congenital disorder of glycosylation type Ia (CDG-Ia)…
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Tuesday March 20th, 2018 in Diseases

Congenital Disorder Of Glycosylation Type Ib

What is Congenital Disorder of Glycosylation Type Ib? Congenital disorder of glycosylation type Ib (CDG-Ib)…
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Tuesday March 20th, 2018 in Diseases

Congenital Disorder Of Glycosylation Type Ic

What is Congenital Disorder of Glycosylation Type Ic? Congenital disorders of glycosylation are a group…
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Tuesday March 20th, 2018 in Diseases

Congenital Finnish Nephrosis

What is Congenital Finnish Nephrosis? Congenital Finnish nephrosis is an inherited disease in which the…
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Tuesday March 20th, 2018 in Diseases

Costeff Optic Atrophy Syndrome

What is Costeff Optic Atrophy Syndrome? People with Costeff optic atrophy syndrome, also called 3-methylglutaconic…
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Tuesday March 20th, 2018 in Diseases

Cystic Fibrosis

What is Cystic Fibrosis? Cystic fibrosis (CF) is a genetic condition characterized by the production…
Read More
Tuesday March 20th, 2018 in Diseases

Cystinosis

What is Cystinosis? Cystinosis is an inherited disease that causes the amino acid cysteine to…
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Wednesday August 1st, 2018 in Diseases

Duchenne/Becker Muscular Dystrophy

What are  Duchenne/Becker Muscular Dystrophy? Dystrophinopathies are a group of conditions that generally cause muscle…
Read More
Tuesday March 20th, 2018 in Diseases

Fabry Disease

What is Fabry Disease? Fabry disease is a lysosomal storage disorder caused by a deficiency…
Read More
Friday April 27th, 2018 in Diseases

Factor V Leiden Thrombophilia

Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is…
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Sunday April 15th, 2018 in Diseases

Factor XI Deficiency

Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage…
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Tuesday March 20th, 2018 in Diseases

Familial Dysautonomia

What is Familial Dysautonomia? Familial dysautonomia is an inherited condition that causes nerve cells to…
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Tuesday March 20th, 2018 in Diseases

Familial Mediterranean Fever

What is Familial Mediterranean Fever? Familial Mediterranean fever (FMF) is an inherited condition which causes…
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Tuesday March 20th, 2018 in Diseases

Fanconi Anemia Type C

What is Fanconi Anemia Type C? Fanconi anemia type C is an inherited disorder in…
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Tuesday March 20th, 2018 in Diseases

FKTN-Related Disorders

What are FKTN-related Disorders? FKTN-related Disorders includes a spectrum of conditions that cause muscle weakness…
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Tuesday March 20th, 2018 in Diseases

Fragile X Syndrome

What is Fragile X Syndrome? Fragile X syndrome is a condition that causes a spectrum…
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Tuesday March 20th, 2018 in Diseases

Galactosemia

What is Galactosemia? Galactosemia is a treatable inherited disease that reduces the body's ability to…
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Tuesday March 20th, 2018 in Diseases

GJB2-Related DFNB1 Nonsyndromic Hearing Loss And Deafness

What is GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness? DFNB1 nonsyndromic hearing loss and deafness…
Read More
Tuesday March 20th, 2018 in Diseases

GLB1-Related Disorders

What are GLB1-related Disorders? GM1-gangliosidosis and mucopolysaccharidosis type IVB (MPSIVB) are two distinct, autosomal recessive…
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Sunday April 15th, 2018 in Diseases

Glucose-6-Phosphate Dehydrogenase Deficiency

More than 200 mutations that cause glucose-6-phosphate dehydrogenase deficiency have been identified in the G6PD…
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Tuesday March 20th, 2018 in Diseases

Glutaric Acidemia Type 1

What is Glutaric Acidemia Type 1? Glutaric acidemia type 1 (GA I) is an inherited…
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Tuesday March 20th, 2018 in Diseases

Glycogen Storage Disease Type Ia

What is Glycogen Storage Disease Type Ia? Glycogen storage disease (GSD) type Ia, sometimes called…
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Tuesday March 20th, 2018 in Diseases

Glycogen Storage Disease Type Ib

What is Glycogen Storage Disease Type Ib? Glycogen storage disease (GSD) type Ib is an…
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Tuesday March 20th, 2018 in Diseases

Glycogen Storage Disease Type III

What is Glycogen Storage Disease Type III? Glycogen storage disease type III (GSD III)—also known…
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Tuesday March 20th, 2018 in Diseases

GRACILE Syndrome

What is GRACILE Syndrome? GRACILE syndrome is a fatal inherited disorder caused by a mutation…
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Tuesday March 20th, 2018 in Diseases

HADHA-Related Disorders

What are HADHA-related Disorders? HADHA-related disorders, including long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) and mitochondrial…
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Tuesday March 20th, 2018 in Diseases

Hb Beta Chain-Related Hemoglobinopathy

What is Hb Beta Chain-related Hemoglobinopathy? Hb beta chain-related hemoglobinopathies are a group of inherited…
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Tuesday March 20th, 2018 in Diseases

Hereditary Fructose Intolerance

What is Hereditary Fructose Intolerance? Hereditary fructose intolerance (HFI) is a condition in which the…
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Tuesday March 20th, 2018 in Diseases

Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related

What is Herlitz Junctional Epidermolysis Bullosa, LAMA3-related? Herlitz junctional epidermolysis bullosa (H-JEB) is an inherited…
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Tuesday March 20th, 2018 in Diseases

Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related

What is Herlitz Junctional Epidermolysis Bullosa, LAMB3-related? Herlitz junctional epidermolysis bullosa (H-JEB) is an inherited…
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Tuesday March 20th, 2018 in Diseases

Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related

What is Herlitz Junctional Epidermolysis Bullosa, LAMC2-related? Herlitz junctional epidermolysis bullosa (H-JEB) is an inherited…
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Tuesday March 20th, 2018 in Diseases

Hexosaminidase A Deficiency

What is Hexosaminidase A Deficiency? Hexosaminidase A deficiency is an enzyme deficiency that causes brain…
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Sunday April 15th, 2018 in Diseases

HFE-Associated Hereditary Hemochromatosis

Researchers have identified more than 20 mutations in the HFE gene that cause a form…
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Tuesday March 20th, 2018 in Diseases

Holocarboxylase Synthetase Deficiency

What is Holocarboxylase Synthetase Deficiency? Holocarboxylase synthetase deficiency is a treatable inherited disease in which…
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Tuesday March 20th, 2018 in Diseases

Homocystinuria Caused By Cystathionine Beta-Synthase Deficiency

What is Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency? Homocystinuria caused by cystathionine beta-synthase deficiency, or…
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Tuesday March 20th, 2018 in Diseases

Hypophosphatasia, Autosomal Recessive

What is Hypophosphatasia, Autosomal Recessive? Hypophosphatasia is an inherited disorder that disrupts a process called…
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Tuesday March 20th, 2018 in Diseases

Inclusion Body Myopathy 2

What is Inclusion Body Myopathy 2? Inclusion body myopathy 2 (IBM2) is an inherited disease…
Read More
Tuesday March 20th, 2018 in Diseases

Isovaleric Acidemia

What is Isovaleric Acidemia? Isovaleric acidemia (IVA) is an inherited disorder in which the body…
Read More
Tuesday March 20th, 2018 in Diseases

Joubert Syndrome 2

What is Joubert Syndrome 2? Joubert syndrome 2 (JBTS2) is a disease that causes abnormalities…
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Tuesday March 20th, 2018 in Diseases

KCNJ11-Related Familial Hyperinsulinism

What is KCNJ11-related Familial Hyperinsulinism? KCNJ11-related familial hyperinsulinism (FHI), also called familial hyperinsulinemic hypoglycemia type…
Read More
Tuesday March 20th, 2018 in Diseases

Krabbe Disease

What is Krabbe Disease? Krabbe disease, also known as globoid cell leukodystrophy, is an inherited…
Read More
Sunday April 15th, 2018 in Diseases

Leukoencephalopathy With Vanishing White Matter

Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and…
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Tuesday March 20th, 2018 in Diseases

Lipoamide Dehydrogenase Deficiency

What is Lipoamide Dehydrogenase Deficiency? Lipoamide dehydrogenase deficiency (E3) is a rare inherited disease that…
Read More
Tuesday March 20th, 2018 in Diseases

Lysosomal Acid Lipase Deficiency

What is Lysosomal Acid Lipase Deficiency? Lysosomal acid lipase (LAL) deficiency is an inherited disease…
Read More
Tuesday March 20th, 2018 in Diseases

Maple Syrup Urine Disease Type 1b

What is Maple Syrup Urine Disease Type 1b? Maple syrup urine disease (MSUD) type 1b…
Read More
Tuesday March 20th, 2018 in Diseases

Maple Syrup Urine Disease Type Ia

What is Maple Syrup Urine Disease Type Ia? Maple syrup urine disease (MSUD) type Ia…
Read More
Tuesday March 20th, 2018 in Diseases

Maple Syrup Urine Disease Type II

What is Maple Syrup Urine Disease Type II? Maple syrup urine disease (MSUD) type II…
Read More
Tuesday March 20th, 2018 in Diseases

Medium Chain Acyl-CoA Dehydrogenase Deficiency

What is Medium Chain Acyl-CoA Dehydrogenase Deficiency? Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a…
Read More
Tuesday March 20th, 2018 in Diseases

Megalencephalic Leukoencephalopathy With Subcortical Cysts

What is Megalencephalic Leukoencephalopathy With Subcortical Cysts? Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an…
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Tuesday March 20th, 2018 in Diseases

Metachromatic Leukodystrophy

What is Metachromatic Leukodystrophy? Metachromatic leukodystrophy (MLD) is an inherited genetic disease which damages the…
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Tuesday March 20th, 2018 in Diseases

Methylmalonic Aciduria And Homocystinuria, CblC Type

What is Methylmalonic Aciduria and Homocystinuria, cblC Type? Methylmalonic aciduria and homocystinuria, cblC type is…
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Sunday April 15th, 2018 in Diseases

Mild Hyperhomocysteinemia Caused by MTHFR Deficiency

At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria,…
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Tuesday March 20th, 2018 in Diseases

Mucolipidosis IV

What is Mucolipidosis IV? Mucolipidosis IV is a rare inherited condition that affects the development…
Read More
Tuesday March 20th, 2018 in Diseases

Mucopolysaccharidosis Type I

What is Mucopolysaccharidosis Type I? Mucopolysaccharidosis type I (MPS I) is an inherited disease in…
Read More
Tuesday March 20th, 2018 in Diseases

Mucopolysaccharidosis Type IIIA

What is Mucopolysaccharidosis Type IIIA? Mucopolysaccharidosis type IIIA (MPS IIIA), also known as Sanfilippo syndrome…
Read More
Tuesday March 20th, 2018 in Diseases

Mucopolysaccharidosis Type IIIB

What is Mucopolysaccharidosis Type IIIB? Mucopolysaccharidosis type III B (MPS IIIB) also known as Sanfilippo…
Read More
Tuesday March 20th, 2018 in Diseases

Mucopolysaccharidosis Type IIIC

What is Mucopolysaccharidosis Type IIIC? Mucopolysaccharidosis type IIIC (MPS IIIC), also known as Sanfilippo Type…
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Tuesday March 20th, 2018 in Diseases

Muscle-Eye-Brain Disease

What is Muscle-Eye-Brain Disease? Muscle-eye-brain disease (MEB) is an inherited condition causing a number of…
Read More
Tuesday March 20th, 2018 in Diseases

MUT-Related Methylmalonic Acidemia

What is MUT-related Methylmalonic Acidemia? Methylmalonic acidemia represents a group of disorders that affect the…
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Tuesday March 20th, 2018 in Diseases

NEB-Related Nemaline Myopathy

What is NEB-related Nemaline Myopathy? Nemaline myopathy (NEB-related) is a genetic disease that causes weakness…
Read More
Tuesday March 20th, 2018 in Diseases

Nephrotic Syndrome, NPHS2-Related

What Is Nephrotic Syndrome, NPHS2-Related? Nephrotic syndrome, NPHS2-related is an inherited condition that causes issues…
Read More
Tuesday March 20th, 2018 in Diseases

Niemann-Pick Disease Type C

What is Niemann-Pick Disease Type C? Niemann-Pick disease type C is an inherited condition in…
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Tuesday March 20th, 2018 in Diseases

Niemann-Pick Disease Type C2

What is Niemann-Pick Disease Type C2? Niemann-Pick disease type C is an inherited condition in…
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Tuesday March 20th, 2018 in Diseases

Niemann-Pick Disease, SMPD1-Associated

What is Niemann-Pick Disease, SMPD1-associated? SMPD1-associated Niemann-Pick disease (NPD) is an inherited disease in which…
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Tuesday March 20th, 2018 in Diseases

Nijmegen Breakage Syndrome

What is Nijmegen Breakage Syndrome? Nijmegen breakage syndrome (NBS) is an inherited disease in which…
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Wednesday August 1st, 2018 in Diseases

Nonsyndromic Hearing Loss and Deafness, MT-RNR1-related

What is Nonsyndromic Hearing Loss and Deafness, MT-RNR1-related? Non-syndromic hearing loss is a partial or…
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Tuesday March 20th, 2018 in Diseases

Northern Epilepsy

What is Northern Epilepsy? Northern epilepsy is an inherited disease that causes seizures and leads…
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Tuesday March 20th, 2018 in Diseases

Ornithine Transcarbamylase Deficiency

What is Ornithine Transcarbamylase Deficiency? Ornithine transcarbamylase (OTC) deficiency is a metabolic disorder that results…
Read More
Tuesday March 20th, 2018 in Diseases

PCCB-Related Propionic Acidemia

What is PCCB-related Propionic Acidemia? Propionic acidemia is an inherited condition caused by a deficiency…
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Tuesday March 20th, 2018 in Diseases

PCDH15-Related Disorders

What are PCDH15-related Disorders? PCDH15-related disorders represent a group of disorders associated with hearing loss…
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Tuesday March 20th, 2018 in Diseases

Pendred Syndrome

What is Pendred Syndrome? Pendred syndrome is an inherited condition that affects the body's ability…
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Tuesday March 20th, 2018 in Diseases

Peroxisome Biogenesis Disorder Type 3

What is Peroxisome Biogenesis Disorder Type 3? Peroxisome biogenesis disorder type 3 (also known as PEX12-related…
Read More
Tuesday March 20th, 2018 in Diseases

Peroxisome Biogenesis Disorder Type 4

What is Peroxisome Biogenesis Disorder Type 4? Peroxisome biogenesis disorder type 4 (also known as PEX6-related…
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Tuesday March 20th, 2018 in Diseases

Peroxisome Biogenesis Disorder Type 5

What is Peroxisome Biogenesis Disorder Type 5? Peroxisome biogenesis disorder type 5 (also known as PEX2-related…
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Tuesday March 20th, 2018 in Diseases

Peroxisome Biogenesis Disorder Type 6

What is Peroxisome Biogenesis Disorder Type 6? Peroxisome biogenesis disorder type 6 (also known as PEX10-related…
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Tuesday March 20th, 2018 in Diseases

PEX1-Related Zellweger Syndrome Spectrum

What is PEX1-related Zellweger Syndrome Spectrum? PEX1-related Zellweger syndrome spectrum (ZSS) is an inherited disease…
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Tuesday March 20th, 2018 in Diseases

Phenylalanine Hydroxylase Deficiency

What is Phenylalanine Hydroxylase Deficiency? Phenylalanine hydroxylase deficiency is a treatable inherited disease in which…
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Tuesday March 20th, 2018 in Diseases

PKHD1-Related Autosomal Recessive Polycystic Kidney Disease

What is PKHD1-related Autosomal Recessive Polycystic Kidney Disease? PKHD1-related autosomal recessive polycystic kidney disease (ARPKD)…
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Tuesday March 20th, 2018 in Diseases

Polyglandular Autoimmune Syndrome Type 1

What is Polyglandular Autoimmune Syndrome Type 1? Polyglandular Autoimmune Syndrome Type 1 (PAS-1) is an…
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Tuesday March 20th, 2018 in Diseases

Pompe Disease

What is Pompe Disease? Pompe disease, also known as glycogen storage disease type II, is…
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Tuesday March 20th, 2018 in Diseases

PPT1-Related Neuronal Ceroid Lipofuscinosis

What is PPT1-related Neuronal Ceroid Lipofuscinosis? PPT1-related neuronal ceroid-lipofuscinosis (NCL) is an inherited disease that…
Read More
Tuesday March 20th, 2018 in Diseases

Primary Carnitine Deficiency

What is Primary Carnitine Deficiency? Primary carnitine deficiency is a condition in which the body…
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Tuesday March 20th, 2018 in Diseases

Primary Hyperoxaluria Type 1

What is Primary Hyperoxaluria Type 1? Primary hyperoxaluria type 1 (PH1) is an inherited disease…
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Tuesday March 20th, 2018 in Diseases

PROP1-Related Combined Pituitary Hormone Deficiency

What is PROP1-related Combined Pituitary Hormone Deficiency? PROP1-related combined pituitary hormone deficiency (CPHD) is an…
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Tuesday March 20th, 2018 in Diseases

Pycnodysostosis

What is Pycnodysostosis? Pycnodysostosis (PYCD), also spelled pyknodysostosis, is an inherited disease that causes the…
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Tuesday March 20th, 2018 in Diseases

Pyruvate Carboxylase Deficiency

What is Pyruvate Carboxylase Deficiency? Pyruvate carboxylase (PC) deficiency is an inherited enzyme defect that…
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Tuesday March 20th, 2018 in Diseases

Rhizomelic Chondrodysplasia Punctata Type 1

What is Rhizomelic Chondrodysplasia Punctata Type 1? Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is an…
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Tuesday March 20th, 2018 in Diseases

Salla Disease

What is Salla Disease? Salla disease, also called free sialic acid storage disease, is an…
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Tuesday March 20th, 2018 in Diseases

Sandhoff Disease

What is Sandhoff Disease? Sandhoff disease is an inherited, lysosomal storage disorder caused by the…
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Friday April 27th, 2018 in Diseases

Segawa Syndrome

What is Segawa Syndrome? Segawa syndrome, also called dopa-responsive dystonia, is an inherited disease that…
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Tuesday March 20th, 2018 in Diseases

Short Chain Acyl-CoA Dehydrogenase Deficiency

What is Short Chain Acyl-CoA Dehydrogenase Deficiency? Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an inherited…
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Tuesday March 20th, 2018 in Diseases

Sjogren-Larsson Syndrome

What is Sjogren-Larsson Syndrome? Sjogren-Larsson syndrome (SLS) is an inherited condition with symptoms including dry,…
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Tuesday March 20th, 2018 in Diseases

Smith-Lemli-Opitz Syndrome

What is Smith-Lemli-Opitz Syndrome? Smith-Lemli-Opitz syndrome, or SLO syndrome, is an inherited disorder in which…
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Tuesday March 20th, 2018 in Diseases

Spinal Muscular Atrophy

What is Spinal Muscular Atrophy? Spinal muscular atrophy (SMA) is a disease in which certain…
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Tuesday March 20th, 2018 in Diseases

Sulfate Transporter-Related Osteochondrodysplasia

What is Sulfate Transporter-Related Osteochondrodysplasia? Sulfate transporter-related osteochondrodysplasias are a group of inherited diseases caused…
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Tuesday March 20th, 2018 in Diseases

TGM1-Related Autosomal Recessive Congenital Ichthyosis

What is TGM1-related Autosomal Recessive Congenital Ichthyosis? TGM1-related autosomal recessive congenital ichthyosis (ARCI) is a…
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Tuesday March 20th, 2018 in Diseases

TPP1-Related Neuronal Ceroid Lipofuscinosis

What is TPP1-related Neuronal Ceroid Lipofuscinosis? TPP1-related neuronal ceroid lipofuscinosis (NCL) is an inherited disease…
Read More
Tuesday March 20th, 2018 in Diseases

Tyrosinemia Type I

What is Tyrosinemia Type I? Tyrosinemia type I is an inherited metabolic disorder in which…
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Tuesday March 20th, 2018 in Diseases

Usher Syndrome Type 3

What is Usher Syndrome Type 3? Usher syndrome type 3 is an inherited disease that…
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Tuesday March 20th, 2018 in Diseases

Very Long Chain Acyl-CoA Dehydrogenase Deficiency

What is Very Long Chain Acyl-CoA Dehydrogenase Deficiency? Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency…
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Tuesday March 20th, 2018 in Diseases

Wilson Disease

What is Wilson Disease? Wilson disease is an inherited disease that causes the body to…
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Tuesday March 20th, 2018 in Diseases

X-Linked Adrenoleukodystrophy

What is X-Linked Adrenoleukodystrophy? X-linked adrenoleukodystrophy (X-ALD) is a genetic condition that primarily affects the…
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Tuesday March 20th, 2018 in Diseases

X-Linked Congenital Adrenal Hypoplasia

What is X-Linked Congenital Adrenal Hypoplasia? X-linked congenital adrenal hypoplasia (XLCAH), is a disease caused…
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Wednesday August 1st, 2018 in Diseases

X-Linked Ichthyosis

What is X-Linked Ichthyosis? X-linked ichthyosis is a genetic disorder caused by a mutation in…
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Tuesday March 20th, 2018 in Diseases

X-Linked Juvenile Retinoschisis

What is X-Linked Juvenile Retinoschisis? X-linked juvenile retinoschisis is an inherited eye disorder that makes…
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