Lab test

Prenatal Carrier Screening Test - Inherited

This prenatal carrier screening panel checks carrier status for three inherited conditions: spinal muscular atrophy, fragile X syndrome, and cystic fibrosis.

Typical price

From $1

Results

1-3 business days

Preparation

See preparation notes below

Sample

Blood draw or sample collection at a local center

This prenatal carrier screening panel checks carrier status for three inherited conditions: spinal muscular atrophy, fragile X syndrome, and cystic fibrosis. It analyzes the SMN1 gene, the FMR1 gene, and common CFTR mutations. Carriers usually have no symptoms but can pass a condition to a child. Clinicians order it for reproductive planning so that couples can understand inherited risk before or during pregnancy.

• SMN1 gene copy number and exon 7 deletion (SMA) Screens for spinal muscular atrophy carrier status.
• FMR1 gene CGG repeat expansion (fragile X) Screens for fragile X premutation and carrier status.
• CFTR gene mutation panel (cystic fibrosis) Screens for common cystic fibrosis mutations.

• People planning a pregnancy or currently pregnant.
• Couples considering reproductive carrier screening.
• Individuals with a family history of any of these conditions.
• People with a partner known to carry one of these conditions.
• Anyone wanting inherited-risk information before conception.

• No fasting is required for prenatal carrier screening.
• Take usual medications unless told otherwise.
• Share family history and reproductive plans.
• A blood sample is commonly used.
• Genetic counseling is advised before and after testing.

Each component reports carrier status for its condition. A positive result indicates a carrier state, and risk to a child depends on whether both partners are carriers. Not every possible mutation is tested, so a negative result reduces but does not eliminate risk. Because results can have family-planning implications, review them with a genetic counselor. Discuss the findings with a healthcare provider and genetic counselor.

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