Carrier Screening

Informed decision-making to assist in family planning.

What Is A Carrier Screening Test?

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

Recessive Conditions

Recessive conditions can remain “hidden” in families for generations. For the condition to manifest, a child must inherit two pathogenic variants – one from each parent. Many recessive conditions are debilitating, requiring lifelong care or causing death early in infancy or childhood.  Testing for hidden recessive variants is encouraged for parents so they can make proactive choices in family planning.

Dominant Conditions

Dominant conditions can manifest with only one pathogenic variant. If a copy of the dominant allele is present, the person may be affected by an autosomal dominant disorder such as breast and ovarian cancer syndrome. This type of disorder can be passed down from either parent and affects both male and female children.

Why Is Carrier Screening Important?

Carrier screening is important because it provides couples with time to consider a full range of reproductive options. Testing is recommended by the American College of Obstetricians and Gynecologists, and is most powerful when done before pregnancy. There are associated benefits and risks which should be considered prior to the screening. LifeBrite strongly recommends potential parents speak with a genetic counselor or specialist after receiving the test results. This professional help is often critical when making difficult decisions regarding conception.

Ashkenazi Jewish Carrier Screening Panel

Bardet-Biedl Syndrome: BBS2 Related BBS2
Bloom Syndrome BLM
Canavan Disease ASPA
Cystic Fibrosis (Ashkenazi variant only) CFTR
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
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 (HbCS allele) HBA2
Cystic Fibrosis (ACOG recommend 23) CFTR
Gaucher Disease GBA
Sickle-Cell Anemia HBB
Tay-Sachs Disease HEXA

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