Germline (Hereditary) Genetics

Carrier Screening

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Most people do not know they are a carrier for an inherited genetic disease until they have a child with the disease.

Suitable for

Individuals or couples planning a pregnancy

Sample Requirements

Saliva: ≥2ml

Peripheral blood: ≥5ml


Next Generation Sequencing (NGS)

The BGI VISTA™ Carrier Screening detects over 9,000 mutations across 147 genes, for more than 150 genetic disorders

and offers one of the most comprehensive, accurate, and affordable pre-pregnancy screening tests on the market.

Why Choose Carrier Screening?

BGI VISTA™ Carrier Screening can be ordered before
or during pregnancy and is ideally suited for couples
who want to learn about their genetic status so that
they can make more informed reproductive


Vector (4)


Test from just peripheral blood or saliva

Vector (5)


Screen for multiple diseases with high accuracy

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Comprehensive or targeted panel options available

Indication for Testing

Consanguinity: when a couple's parents are closely related, they may have a higher chance of being carriers of the same genetic disorder and an increased risk of passing on the genetic disorder to their children.

People with a family history of a genetic disease or from an ethnic background known to be at risk for certain genetic diseases and who are therefore at higher risk of being carriers for those diseases

Couples who are already pregnant and who wish to know more about the genetic health of their pregnancy


Turnaround times for specific tests vary as per the table below. TATs are calculated from the time the sample is received and accepted at the laboratory.

Genalive offers the following Carrier Screening tests:

Product Name Product Code TAT
Vista™ Carrier Screening Targeted Panel SDX3101 20-30 days

Genalive Genetic Counselors are available to Healthcare providers to help navigate which test is best for their patient.

Technical limitations

Detected variations include: single point mutations, small Indel (within 20bp).

Large duplications and deletions, balanced translocations, inversions, ploidy changes, uniparental disomy, and methylation alterations cannot be detected.