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 DeficiencyPHGDH
AbetalipoproteinemiaMTTP
Arthrogryposis, Mental Retardation, & SeizuresSLC35A3
Bardet-Biedl Syndrome: BBS2 RelatedBBS2
Bloom SyndromeBLM
Canavan DiseaseASPA
Carnitine Palmitoyltransferase II DeficiencyCPT2
Congenital Disorder of Glycosylation: Type 1A: PMM2 RelatedPMM2
Dihydrolipoamide Dehydrogenase Deficiency (DLD)DLD
Familial DysautonomiaIKBKAP
Familial Hyperinsulinism: Type 1: ABCC8 RelatedABCC8
Fanconi Anemia: Type CFANCC
Galactosemia GALT
Gaucher DiseaseGBA
Glycogen Storage Disease: Type IAG6PC
Hereditary Breast and Ovarian Cancer SyndromeBRCA1
Hereditary Breast and Ovarian Cancer SyndromeBRCA2
Joubert SyndromeTMEM216
Maple Syrup Urine Disease: Type 1BBCKDHB
Mucolipidosis: Type IVMCOLN1
Multiple Sulfatase DeficiencySUMF1
Nemaline Myopathy: NEB RelatedNEB
Niemann-Pick Disease: Type A (ASM deficiency)SMPD1
Tay-Sachs DiseaseHEXA
Tyrosinemia: Type IFAH
Usher Syndrome: Type 1FPCDH15 & CLRN1

General Carrier Screening Panel

Alpha ThalassemiaHBA2
Beta ThalassemiaHBB
Bloom SyndromeBLM
Canavan DiseaseASPA
Familial DysautonomiaIKBKAP
Familial Mediterranean FeverMEFV
Fanconi Anemia: Type CFANCC
Gaucher DiseaseGBA
Glycogen Storage Disease: Type IAG6PC
HemochromatosisHFE
Hereditary Inclusion Body MyopathiesGNE
Mucolipidosis: Type IVMCOLN1
Niemann-Pick Disease: Type A (ASM deficiency)SMPD1
Sickle-Cell AnemiaHBB
Tay-Sachs DiseaseHEXA