NJ Series Carrier Screening Test

The NJ Series Carrier Screening Test analyses genes associated with a broad range of clinically relevant recessive genetic disorders.

The screening covers conditions across multiple categories, including:

• Blood and haematological disorders
• Reproductive system disorders
• Neurological and developmental disorders
• Musculoskeletal disorders
• Metabolic disorders
• Circulatory system disorders
• Other rare inherited conditions

The test is intended to identify selected pathogenic or likely pathogenic variants within the scope of the screening panel and may provide useful information for preconception and family planning.

The NJ Series Carrier Screening Test may be particularly relevant for:

Couples Planning to Get Married or Start a Family

Individuals who would like to understand whether they carry genetic variants associated with selected recessive inherited conditions before pregnancy.

Couples Preparing for Pregnancy

Even healthy individuals with no known family history may carry certain recessive disease-associated variants.

Individuals With a Family History of Genetic Disease

People with a known or suspected inherited disorder in their family may consider genetic assessment based on medical advice.

Couples Undergoing IVF or Assisted Reproductive Treatment

Carrier screening may provide additional genetic information before fertility treatment and support discussions regarding reproductive planning.

Individuals With a Previous Pregnancy or Child Affected by a Suspected Genetic Condition

A doctor or genetics professional may first assess whether broad carrier screening or a more targeted genetic test would be appropriate.

Samples are collected according to the requirements of the designated testing centre and laboratory before being sent for genetic analysis.

The exact sample type, preparation requirements and whether both partners should be tested at the same time may depend on the selected screening package and individual circumstances.

Couples planning to undergo carrier screening together may contact Seed Medical in advance for the latest testing arrangements.

• Carrier screening is intended for genetic carrier risk assessment and does not diagnose every inherited disorder.
• The test is limited to the specific genes, conditions and types of genetic variants included within the screening panel.
• A negative result does not eliminate all genetic risk.
• A carrier result does not necessarily mean that the individual is affected by the related condition.
• Different genetic diseases follow different inheritance patterns. The 25% / 50% / 25% inheritance pattern does not apply to every genetic condition.
• Individuals with a known personal or family history of a specific inherited condition may require more targeted genetic testing rather than broad carrier screening alone.
• Clinically significant results should be interpreted together with medical history, family history and, where appropriate, the partner’s test result.
• Carrier screening does not replace NIPT, prenatal screening, prenatal diagnostic testing or other investigations recommended by a doctor.
• The number of conditions and genes included in the screening panel may be updated by the laboratory from time to time. The latest laboratory information should be referred to for the final testing scope.

1. What is carrier screening?

Carrier screening is a genetic test designed to identify whether a person carries selected genetic variants associated with inherited conditions.

Carriers of many recessive genetic disorders may have no obvious symptoms. However, if both partners carry disease-associated variants linked to the same condition, the risk to their future children may be increased.

2. Should healthy people with no family history consider carrier screening?

They may.

Some carriers of recessive genetic disorders remain completely healthy and may have no known family history of the condition.

Carrier screening can therefore provide information about genetic risks that may not be apparent from personal or family medical history alone.

3. Does being a carrier mean I have a genetic disease?

Not necessarily.

For many autosomal recessive conditions, a carrier has one disease-associated genetic variant and may have no symptoms.

The reproductive significance often depends on whether the person’s partner also carries a relevant variant associated with the same condition.

4. If only one partner is a carrier, can the baby still be affected?

This depends on the inheritance pattern, the partner’s genetic status and the specific variants involved.

For a typical autosomal recessive disorder, if only one partner is identified as a carrier and the other partner does not carry a detectable pathogenic variant associated with the same condition, the risk of an affected child is generally lower.

However, genetic testing cannot reduce risk to absolute zero because a residual risk remains.

5. What happens if both partners are carriers of the same condition?

This does not automatically mean that the couple cannot have children.

A doctor or genetics professional can explain the specific condition and discuss possible next steps, which may include further testing, prenatal diagnosis or reproductive options depending on the couple’s circumstances.

6. Is it better to undergo carrier screening before or during pregnancy?

Where possible, carrier screening is often more useful before pregnancy, because couples have more time to understand the results and consider their reproductive options.

Testing may also be performed during pregnancy depending on individual circumstances and medical advice.

7. What is the difference between Carrier Screening and NIPT?

They serve different purposes and do not replace each other.

Carrier Screening evaluates whether the parents carry selected genetic variants associated with inherited diseases.

NIPT, performed during pregnancy, analyses cell-free DNA in maternal blood to assess the risk of certain fetal chromosomal abnormalities.

8. What is the difference between Carrier Screening and a premarital health check?

A general premarital health check may include routine blood tests, infectious disease screening and selected assessments such as thalassaemia screening.

Carrier screening uses genetic analysis to assess whether an individual carries selected variants associated with a much broader range of inherited conditions.

The purpose and scope of the two types of testing are different.

9. Do both partners need to be tested at the same time?

Not necessarily.

Some couples choose to undergo screening together, while others test one partner first and arrange testing for the other partner if a relevant carrier result is identified.

The most appropriate approach depends on timing, family-planning needs and professional advice.

10. Does a negative result mean my future baby will definitely not have a genetic disorder?

No.

Carrier screening can only detect conditions and genetic variants included within the scope of the test and detectable using the applied technology.

A negative result therefore means that the identified risk is reduced, not eliminated.

11. Does “700+ conditions” mean the test can rule out more than 700 genetic diseases?

No.

“700+ conditions” refers to the scope of the screening panel, which includes genes associated with more than 700 inherited conditions.

It does not mean that the test can completely rule out every case of every condition.

The exact genes, variants and conditions covered should be confirmed with the latest laboratory panel information.

12. Do I need to fast before the test?

Fasting requirements depend on the type of sample collected and whether any additional tests are performed at the same appointment.

Please follow the latest sample-collection instructions provided by Seed Medical when making your booking.