Genetic Disorders

Disorders on the Panel

The Center's carrier screening program currently screens for 190 recessive conditions, including about 75 conditions that occur more frequently among Ashkenazi Jews and Sephardic Jews. 

About the Conditions on the Panel

All conditions on the panel are passed down in an autosomal recessive or X-linked fashion.

Autosomal recessive inheritance means that an individual must have two copies of a gene mutation – one inherited from each parent – for the disease to occur. If you and your partner are carriers for the same disease, with each pregnancy, your child will have a 25% chance of being affected, a 50% chance of being a carrier and a 25% chance of being neither affected nor a carrier.

X-linked disorders are typically passed down from carrier mothers to male children. Only women are screened for X-linked conditions in our carrier screening program, since it is highly unlikely for males to be carriers for X-linked disorders without showing symptoms.

Because our panel includes an additional eleven X-linked conditions for women, we recommend screening the female partner first in cases when partners decide not to be tested at the same time. If results show that the female partner is a carrier for one or more disorders, screening is recommended for the male partner to determine if he is a carrier for the same condition.

The conditions included on the screening panel are severe and may have an impact on a person’s quality of life. Many of the conditions have limited or no treatment, require early intervention, or may result in shortened life expectancy. Knowing your carrier status prior to pregnancy allows you to make informed decisions when planning for a family. Couples that are found to be carriers for the same conditions have many options, including: natural conception (pre-natal testing via chorionic villus sampling or amniocentesis is available), pre-implantation genetic testing (PGT) prior to in vitro fertilization (IVF), using a sperm or egg donor, or adoption. Even patients who choose not to alter their family planning approach may benefit from knowledge that can help them prepare if a future child needs early intervention.

Carriers of recessive conditions are usually healthy, since two gene mutations are required to cause the disease. In rare cases, knowing you are a carrier for a certain condition may have implications for your own health. If you are found to be a carrier for a condition that may impact your own health, our Center’s genetic counselor will provide you with guidance for your own medical management. 

List of Conditions on the Screening Panel

*Askenazi Jewish condition (also bolded)

^Sephardi Jewish condition (also bolded)

**X-linked condition

• 11-beta-hydroxylase-deficient congenital adrenal hyperplasia^
• 6-pyruvoyl-tetrahydropterin synthase deficiency
• ABCC8-related familial hyperinsulinism* 
• Abetalipoproteinemia*
• Adenosine deaminase deficiency
• Adrenoleukodystrophy**
• Alpha thalassemia
• Alpha-mannosidosis
• Alpha-sarcoglycanopathy (including Limb-Girdle Muscular Dystrophy, Type 2D)
• Alport syndrome**
• Alstrom syndrome
• AMT-related glycine encephalopathy
• Andermann syndrome
• Argininemia
• Argininosuccinic aciduria
• ARSACS
• Asparagine synthetase deficiency*^
• Aspartylglycosaminuria
• Ataxia with vitamin E deficiency
• Ataxia-telangiectasia^
• ATP7A-related disorders**
• Autosomal recessive osteopetrosis type 1
• Bardet-Biedl syndrome, BBS1-related
• Bardet-Biedl Syndrome, BBS2-related
• Bardet-Biedl syndrome, BBS10-related
• Bardet-Biedl syndrome, BBS12-related
• Beta-sarcoglycanopathy (including Limb-Girdle Muscular Dystrophy, Type 2E)
• Bloom syndrome*
• Calpainopathy
• Canavan disease*
• Carbamoylphosphate synthetase I deficiency
• Carnitine palmitoyltransferase IA deficiency
• Carnitine palmitoyltransferase II deficiency
• Cartilage-hair hypoplasia
• Cerebrotendinous xanthomatosis^
• Choreoacanthocytosis*
• Citrullinemia type 1
• CLN3-related neuronal ceroid lipofuscinosis
• CLN5-related neuronal ceroid lipofuscinosis
• CLN6-related neuronal ceroid lipofuscinosis
• Cohen syndrome
• COL4A3-related Alport syndrome
• COL4A4-related Alport syndrome
• Congenital amegakaryocytic thrombocytopenia*
• Congenital disorder of glycosylation type Ia
• Congenital disorder of glycosylation type Ib
• Congenital disorder of glycosylation type Ic
• Congenital Finnish nephrosis
• Congenital insensitivity to pain with anhidrosis*
• Costeff optic atrophy syndrome^
• CYBA-related chronic granulomatous disease*^
• Cystic fibrosis*
• Cystinosis^
• D-bifunctional protein deficiency
  
• DNAH5-related primary ciliary dyskinesia*
• DNAI1-related primary ciliary dyskinesia*
• DNAI2-related primary ciliary dyskinesia*
• Dystrophinopathies (including Duchenne/Becker muscular dystrophy)**
• ERCC6-related disorders
• ERCC8-related disorders
• EVC2-related Ellis-van Creveld syndrome
• EVC-related Ellis-van Creveld syndrome
• Fabry disease**
• Familial dysautonomia*
• Fanconi anemia complementation group A^
• Fanconi anemia type C*
• FKRP-related disorders
• Fragile X syndrome**
• Galactokinase deficiency
• Galactosemia
• Gamma-sarcoglycanopathy
• Gaucher disease*
• GBE1-related disorders*
• GJB2-related DFNB1 nonsyndromic hearing loss and deafness (including two GJB6 deletions)
• GLB1-related disorders
• GLDC-related glycine encephalopathy
• Glutaric acidemia type 1
• Glycogen storage disease type Ia*
• Glycogen storage disease type Ib
• Glycogen storage disease type III^
• Glycogen storage disease type VII*
• GNPTAB-related disorders
• GRACILE syndrome
• HADHA-related Disorders (including Long Chain 3-Hydroxyacal-CoA Dehydrogenase Deficiency)
• Hb beta chain-related hemoglobinopathy (including beta thalassemia and sickle cell disease)
• Hereditary fructose intolerance
• Herlitz junctional epidermolysis bullosa, LAMA3-related
• Herlitz junctional epidermolysis bullosa, LAMB3-related
• Herlitz junctional epidermolysis bullosa, LAMC2-related
• Hermansky-Pudlak syndrome type 3*
• HMG-CoA lyase deficiency
• Holocarboxylase synthetase deficiency
• Homocystinuria caused by cystathionine beta-synthase deficiency
• Hydrolethalus syndrome
• Hypophosphatasia, autosomal recessive
• Inclusion body myopathy 2 (GNE Myopathy/HIBM)^
• Isovaleric acidemia
• Joubert syndrome 2*
• KCNJ11-related familial hyperinsulinism
• Krabbe disease
• LAMA2-related muscular dystrophy
• Leigh syndrome, French-Canadian type
• Limb-girdle muscular dystrophy type 2C 
  
• Lipoamide dehydrogenase deficiency*
• Lipoid congenital adrenal hyperplasia 
• LOXHD1-related DFNB77 hearing loss and deafness*
• Lysosomal acid lipase deficiency^
• Maple syrup urine disease type 1B*
• Maple syrup urine disease type Ia
• Maple syrup urine disease type II
• Medium chain acyl-CoA dehydrogenase deficiency
• Megalencephalic leukoencephalopathy with subcortical cysts^
• Metachromatic leukodystrophy^
• Methylmalonic acidemia, cblA type
• Methylmalonic acidemia, cblB type
• Methylmalonic aciduria and homocystinuria, cblC type
• Mitochondrial complex I deficiency (NDUFAF5)*
  
• Mitochondrial complex I deficiency (NDUFS6)*
• Mitochondrial neurogastrointestinal encephalopathy disease*^
• MKS1-related disorders
• Mucolipidosis III gamma
• Mucolipidosis IV*
• Mucopolysaccharidosis type I (including Hurler syndrome)
• Mucopolysaccharidosis type II (Hunter syndrome)**
• Mucopolysaccharidosis type IIIA
• Mucopolysaccharidosis type IIIB
• Mucopolysaccharidosis type IIIC
• Multiple sulfatase deficiency*
• Muscle-eye-brain disease
• MUT-related methylmalonic acidemia
• MYO7A-related disorders
• Myopathy, lactic acidosis, and sideroblastic anemia*
• NEB-related nemaline myopathy*
• Niemann-Pick disease type C
• Niemann-Pick disease type C2
• Niemann-Pick disease, SMPD1-associated (types A and B)*
• Nijmegen breakage syndrome
  
• Northern epilepsy
• Ornithine aminotransferase deficiency*^
• Ornithine transcarbamylase deficiency**
• PCCA-related propionic acidemia
• PCCB-related propionic acidemia
• Pendred syndrome
• Peroxisome biogenesis disorder type 3
• Peroxisome biogenesis disorder type 4
• Peroxisome biogenesis disorder type 5
• Peroxisome biogenesis disorder type 6
• PEX1-related Zellweger spectrum disorder
• PEX2-related Zellweger spectrum disorder
• PEX6-related Zellweger spectrum disorder
• PEX10-related Zellweger spectrum disorder
• PEX12-related Zellweger spectrum disorder
• Phenylalanine hydroxylase deficiency (PKU)
• Phosphoglycerate dehydrogenase deficiency*
• PKHD1-related autosomal recessive polycystic kidney disease
• Polyglandular autoimmune syndrome type 1
• Pompe disease
• Pontocerebellar hypoplasia type 1A*^
• Pontocerebellar hypoplasia type 2D*^
  
• Pontocerebellar hypoplasia type 6*^
• Postnatal progressive microcephaly with seizures and brain atrophy*^
• PPT1-related neuronal ceroid lipofuscinosis
• Primary hyperoxaluria type 1
• Primary hyperoxaluria type 2
• Primary hyperoxaluria type 3 
• PROP1-related combined pituitary hormone deficiency
• Pycnodysostosis
• Pyruvate carboxylase deficiency
• RAG2-related disorders*
• RAPSN-related disorders*
• Renal tubular acidosis with deafness*
• Retinitis pigmentosa type 25*^
• Retinitis pigmentosa type 26*^
• Retinitis pigmentosa type 28*^
• Retinitis pigmentosa type 59*
• Rhizomelic chondrodysplasia punctata type 1
• RPE65-related disorders (including Leber congenital amaurosis & retinitis pigmentosa)*^
• RTEL1-related Disorders
  
• Salla disease
• Sandhoff disease
• Segawa syndrome
• Sialic acid storage disorders
• Sjogren-Larsson syndrome
• Smith-Lemli-Opitz syndrome^
• Spastic paraplegia 49*^
• Spastic paraplegia type 15
• Spinal muscular atrophy*
• Spondylothoracic dysostosis
• Steroid-resistant nephrotic syndrome
• Sulfate transporter-related osteochondrodysplasia
• Tay-Sachs disease (and other hexosaminidase A deficiencies)*
• TGM1-related autosomal recessive congenital ichthyosis
• TPP1-related neuronal ceroid lipofuscinosis
• Tyrosinemia type I
• Tyrosinemia type II
• USH1C-related disorders
• USH2A-related disorders
• Usher syndrome type 1B 
• Usher syndrome type 1F (and other PCDH15-related disorders)*^
• Usher syndrome type 3*^
• Very long chain acyl-CoA dehydrogenase deficiency
• Walker-Warburg syndrome (and other FKTN-related disorders)*
• Wilson disease^
• Xeroderma pigmentosum group A
• Xeroderma pigmentosum group C
  
• X-linked juvenile retinoschisis**
• X-linked myotubular myopathy**
• X-linked severe combined immunodeficiency**