Carrier Screening

Informed decision-making to assist in family planning.

Carrier screening is recommended by the American College of Obstetricians and Gynecologists

Carrier screening is a genetic test that looks to see if an individual is a carrier for pathogenic, or disease causing, genetic variants. This type of test is valuable for couples who want to know their risks for having a child with specific genetic conditions. Carrier screening can look for recessive and autosomal dominant conditions.

Recessive conditions can remain “hidden” in families for generations

For a recessive condition to manifest, a child must inherit two pathogenic variants, one from each parent. Many of these conditions are incredibly debilitating, requiring lifelong care or causing death early in infancy or childhood. By testing to see if one or both parents carry hidden recessive variants, a couple can make proactive choices in family planning.

Dominant conditions manifest with only one pathogenic variant

Only one copy of a dominant allele is needed for a person to be affected by an autosomal dominant disorder. Hereditary breast and ovarian cancer syndrome is a type of dominant disorder that can be passed down from either parent and affects both male and female children.

Carrier screening is most powerful when done before pregnancy

One major benefit of carrier screening is that it provides couples with time to consider a full range of reproductive options. This test should only be considered after a thorough evaluation of the benefits and risks associated with carrier screening. Because there may be difficult choices to consider after receiving test results, we strongly recommend potential parents speak with a genetic counselor or genetic specialist before making any changes in reproductive plans.

Ashkenazi Jewish Carrier Screening Panel

3-Phosphoglycerate Dehydrogenase Deficiency PHGDH
Abetalipoproteinemia MTTP
Arthrogryposis, Mental Retardation, & Seizures SLC35A3
Bardet-Biedl Syndrome: BBS2 Related BBS2
Bloom Syndrome BLM
Canavan Disease ASPA
Carnitine Palmitoyltransferase II Deficiency CPT2
Congenital Disorder of Glycosylation: Type 1A: PMM2 Related PMM2
Dihydrolipoamide Dehydrogenase Deficiency (DLD) DLD
Familial Dysautonomia IKBKAP
Familial Hyperinsulinism: Type 1: ABCC8 Related ABCC8
Fanconi Anemia: Type C FANCC
Galactosemia GALT
Gaucher Disease GBA
Glycogen Storage Disease: Type IA G6PC
Hereditary Breast and Ovarian Cancer Syndrome BRCA1
Hereditary Breast and Ovarian Cancer Syndrome BRCA2
Joubert Syndrome TMEM216
Maple Syrup Urine Disease: Type 1B BCKDHB
Mucolipidosis: Type IV MCOLN1
Multiple Sulfatase Deficiency SUMF1
Nemaline Myopathy: NEB Related NEB
Niemann-Pick Disease: Type A (ASM deficiency) SMPD1
Tay-Sachs Disease HEXA
Tyrosinemia: Type I FAH
Usher Syndrome: Type 1F PCDH15 & CLRN1

General Carrier Screening Panel

Alpha Thalassemia HBA2
Beta Thalassemia HBB
Bloom Syndrome BLM
Canavan Disease ASPA
Familial Dysautonomia IKBKAP
Familial Mediterranean Fever MEFV
Fanconi Anemia: Type C FANCC
Gaucher Disease GBA
Glycogen Storage Disease: Type IA G6PC
Hemochromatosis HFE
Hereditary Inclusion Body Myopathies GNE
Mucolipidosis: Type IV MCOLN1
Niemann-Pick Disease: Type A (ASM deficiency) SMPD1
Sickle-Cell Anemia HBB
Tay-Sachs Disease HEXA

Cystic Fibrosis Carrier Screening

Cystic Fibrosis CFTR


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