OASIS Health / Carrier Screening

REPRODUCTIVE GENETICS

VISTA™

Carrier Screening

Genetic information to support family planning decisions.

Carrier screening assesses whether a person carries selected genetic variants associated with inherited conditions, even when they have no symptoms.

Before or during pregnancyBlood or salivaMultiple panel options
A couple discussing their future at home02 / 05
01

OVERVIEW

About VISTA™

Many healthy people carry a variant associated with a recessive genetic condition. If both partners carry variants related to the same condition, there may be a chance of passing the condition to a child.

VISTA™ uses next-generation sequencing to analyse multiple genes associated with inherited conditions. The result is intended to support discussion with healthcare professionals about reproductive options.

02

FEATURES

Key features

01

Available before pregnancy

Testing may be considered before marriage, while planning a pregnancy or during pregnancy, depending on individual circumstances.

02

Panel options for different needs

Options range from a focused set of conditions to broader panels covering a larger number of genes.

03

Supports couple-based consultation

Results should be interpreted clinically, with partner testing or genetic counselling considered when appropriate.

03

SPECIFICATION

Test specification

Test category
Carrier screening
Who may consider it
People planning a pregnancy, pregnant patients and their partners
Specimen
2–5 mL blood or saliva
Method
Next-generation sequencing (NGS)
Options
Mini / Targeted Panel / Expanded Panel
Principal variant types
Single-nucleotide variants, small insertions and deletions, and selected exon-level copy-number variants
Turnaround
Approximately 20–25 business days; specimen and analysis status may affect timing
Access
Through participating medical institutions

Specifications and turnaround may vary according to specimen quality, transport, analytical status and the menu offered by the medical institution.

04

DETAILS

01

Mini Panel

A focused option covering a limited group of clinically relevant conditions.

  • A configuration covering 11 conditions
  • A concise scope for initial consideration
  • Final availability should be confirmed with the medical institution
02

Targeted Panel

A multi-gene option designed to assess a broader group of inherited conditions.

  • Product materials describe a 172-condition configuration
  • A 164-gene configuration
  • Reference to more than 10,000 known variants
03

Expanded Panel

A broader option for people seeking a more comprehensive assessment.

  • A configuration covering more than 1,200 inherited conditions
  • Specialist interpretation is important
  • Scope and limitations should be reviewed before testing
05

PROCESS

Testing process

  1. 01

    Clinical consultation

    Family history, pregnancy status and the purpose of testing are reviewed.

  2. 02

    Panel selection

    The condition list and limitations are explained before selecting a panel.

  3. 03

    Specimen collection

    A blood or saliva specimen is collected.

  4. 04

    Analysis

    Genes are analysed and variants are assessed under the designated criteria.

  5. 05

    Result consultation

    Partner testing or specialist consultation may be considered based on the result.

06

FAQ

Frequently asked questions

QDoes being a carrier mean that I will develop the condition?

AFor many autosomal recessive conditions, carriers do not develop typical symptoms. The meaning varies by condition and inheritance pattern, so individual results require clinical interpretation.

QDoes a negative result exclude all inherited conditions?

ANo. Variants outside the test scope and changes that are technically difficult to detect may not be identified. A negative result does not reduce risk to zero.

Important information

The test has limits determined by the genes, regions and variant types analysed. It may not detect large structural changes, balanced translocations, inversions, polyploidy, methylation abnormalities or other changes outside its scope.

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