Preconception Screening

Comprehensive Carrier Screening + Genetic Counseling

14 business daysWhole Exome Sequencing + Targeted PanelsBlood sample or saliva collection from each partner

What is this test?

Our most comprehensive carrier screening combines whole exome sequencing (WES) with specialized tests for SMA, Fragile X, cystic fibrosis, and DMD — examining approximately 20,000 genes to identify whether you or your partner silently carry genetic conditions that could affect your future children. Being a carrier typically means you are healthy but could pass the condition to your child if your partner carries the same gene.

Key Benefits

Most Comprehensive Panel Available

WES-based screening covers ~20,000 genes — far more than standard carrier panels that test 100-300 genes.

Actionable Before Pregnancy

Knowing carrier status before conception gives couples time to explore all reproductive options including PGT-M, donor gametes, or prenatal diagnosis.

Expert Genetic Counseling Included

Every result includes a consultation with a certified genetic counselor to ensure you understand what it means for your family.

Couples-Based Analysis

We analyze both partners together to identify shared carrier risks, providing a clear picture of reproductive risk for your specific partnership.

How It Works

Sample Collection

A blood draw or saliva sample is collected from each partner. Both samples can be collected at the same visit.

Whole Exome Sequencing

DNA is extracted and sequenced across ~20,000 genes using our Illumina platform, covering the coding regions where most disease-causing variants occur.

Targeted Panel Testing

Specialized assays are run in parallel for conditions requiring specific methods: SMA (MLPA for SMN1 copy number), Fragile X (repeat expansion), cystic fibrosis, and DMD.

Variant Analysis

Our bioinformatics pipeline and molecular genetics team analyze and classify all detected variants according to ACMG/AMP guidelines.

Genetic Counseling

Results are reviewed with a certified genetic counselor who explains carrier status, calculates reproductive risk for the couple, and discusses options including PGT-M if applicable.

Who should consider this test?

All couples planning a pregnancy (ACOG recommends carrier screening for all, regardless of ethnicity)
Couples about to start IVF (results inform PGT-M options if both partners are carriers)
Those with a family history of genetic conditions
Individuals from populations with higher carrier rates (e.g., Mediterranean, Ashkenazi Jewish, South Asian)
Consanguineous couples (related by blood), who have higher shared carrier risk

Accuracy & Clinical Evidence

Test Accuracy

WES provides >99% analytical sensitivity for coding region variants. Supplementary targeted assays for SMA (MLPA), Fragile X (PCR/CE), and DMD achieve condition-specific clinical sensitivity exceeding 95%.

ACOG and ACMG recommend carrier screening be offered to all individuals considering pregnancy, regardless of ethnicity. Expanded carrier screening using NGS has been shown to identify at-risk couples who would be missed by traditional ethnicity-based screening approaches.

For Healthcare Providers

Preconception screening is performed using clinical whole exome sequencing (WES) on the Illumina platform with >100x mean coverage of coding regions. Supplementary targeted assays include MLPA for SMN1 copy number (SMA), triplet-repeat PCR with capillary electrophoresis for FMR1 (Fragile X), and targeted sequencing for CFTR and DMD. Variant classification follows ACMG/AMP standards. Couples analysis identifies shared carrier status with reproductive risk calculation. Results include mandatory genetic counseling session.

Important Limitations

Carrier screening cannot detect all possible genetic variants — a negative result significantly reduces but does not eliminate carrier risk.
WES does not reliably detect deep intronic variants, large structural rearrangements, or epigenetic changes.
Some conditions have variable expressivity — being a carrier of certain variants may have uncertain clinical implications.
De novo mutations (new mutations not present in parents) cannot be predicted by carrier screening.