Comprehensive genetic carrier screening for 400+ inherited conditions

Pan-Ethnic Carrier Screening –  is a comprehensive genetic carrier screening test performed by The Doctors Laboratory (TDL).

The test screens for more than 400 autosomal recessive and X-linked inherited conditions, providing information about whether you carry selected genetic variants that may be relevant to reproductive planning.

Carrier screening can be considered before pregnancy, particularly if you would like to understand your carrier status across a broad range of inherited conditions.

Who is it for?

Pan-Ethnic Carrier Screening may be suitable for:

• Individuals planning a pregnancy
• Couples considering starting or expanding their family
• People who would like comprehensive carrier screening regardless of ethnic background
• Individuals with mixed or uncertain ancestry
• People with a family history of an inherited condition
• Individuals who want to understand their carrier status before conception

The test can be particularly useful where a broad carrier screening approach is preferred rather than screening based solely on ethnic background.

If you have a known genetic condition or a specific genetic variant in your family, please seek advice from a qualified healthcare professional or genetic counsellor, as a different or additional test may be appropriate.

What does the test screen for?

The GENE Pan-Ethnic Carrier Screening panel offered by TDL screens for 400+ autosomal recessive and X-linked inherited disorders.

The panel includes conditions such as:

• Cystic fibrosis
• Sickle cell disease
• Thalassaemia
• Spinal muscular atrophy
• Other inherited metabolic, neurological and genetic disorders

The screening methodology can assess selected sequence variants, small insertions and deletions, copy-number changes and specific genetic repeat expansions, depending on the condition and gene being assessed.

The exact genes, conditions and variants included in the panel can change as laboratory testing develops. The current TDL laboratory specification should always be checked before testing.

What you receive

When your test is processed, you will receive a laboratory genetic screening report from The Doctors Laboratory.

Your report may provide information including:

• Whether relevant genetic variants were identified
• The associated condition(s), where applicable
• Relevant inheritance information
• Risk assessment and recommendations where appropriate
• Information that may help guide further clinical or genetic assessment

If a carrier status is identified, the result may have implications for reproductive planning and, depending on the circumstances, partner testing may be recommended.

Important

A negative result does not mean that you are not a carrier of any genetic condition. It means that no relevant variant was identified within the scope and technical limitations of the test.

How to order

1. Order your GENE test

Purchase Pan-Ethnic Carrier Screening – through our website.

2. Complete the required information

You will be asked to provide the information required for the laboratory test request, including relevant clinical history.

Patient informed consent is required for genetic testing.

3. Provide your sample

The test requires an EDTA whole blood sample.

TDL specifies a lavender-top Vacutainer, with a required sample volume of 4 mL or 6 mL, depending on the testing requirements.

Your sample collection instructions will be provided as part of the ordering process.

4. Sample processing by TDL

Your sample is sent to The Doctors Laboratory (TDL) for genetic analysis.

5. Receive your results

TDL currently lists an approximate 4-week turnaround time for the Pan-Ethnic Carrier Screen.

Turnaround times can vary, particularly where additional or follow-up testing is required.

Considering testing as a couple?

If you and your partner are both considering carrier screening, partnered testing may be appropriate.

TDL offers a Pan-Ethnic Carrier Screen – Partnered Report option. If you are considering testing together, please ensure that the appropriate partnered testing requirements are confirmed before samples are submitted.

Testing both partners can provide additional information where one partner is identified as a carrier of a condition inherited in an autosomal recessive manner.

Important information for male patients

The GENE panel includes screening for selected X-linked conditions.

TDL states that male patients are not screened for X-linked conditions as part of this carrier screening test.

If an X-linked condition is suspected in a male patient, diagnostic or alternative genetic testing may be required.

Why choose Pan-Ethnic Carrier Screening?

Broad screening approach

Screening covers 400+ inherited conditions, rather than focusing only on conditions traditionally associated with a particular ethnic background.

Suitable across diverse backgrounds

The test can be considered by people from different ethnic backgrounds, including those with mixed or uncertain ancestry.

Reproductive planning

Understanding carrier status can provide information that may be relevant when considering pregnancy and family planning.

Performed by TDL

Your sample is analysed by The Doctors Laboratory, an established UK laboratory providing specialist genetic testing.

FAQs

What is a genetic carrier?

A carrier is an individual who has a genetic variant associated with an inherited condition but does not usually have symptoms of that condition.

For some autosomal recessive conditions, if both biological parents are carriers of disease-causing variants in the same gene, there may be an increased chance of having a child affected by that condition.

Does being a carrier mean I have the condition?

Usually, no. Carrier status generally means that you have a genetic variant associated with an inherited condition without being affected by the condition itself.

The implications depend on the particular gene, variant and condition.

What happens if I am found to be a carrier?

Your result will provide information about the relevant genetic finding. Depending on the condition and your circumstances, testing of your partner and/or discussion with a healthcare professional or genetic counsellor may be recommended.

What if my result is negative?

A negative result means that no relevant variant was identified within the scope and technical limitations of the test.

It does not exclude all possible carrier variants or all inherited genetic conditions.

How many conditions are tested?

The TDL GENE Pan-Ethnic Carrier Screening panel currently screens for more than 400 autosomal recessive and X-linked inherited disorders.

The panel may change over time as genetic testing technology and laboratory practice develop.

Can I have this test if I am not planning a pregnancy?

Carrier screening is primarily relevant to reproductive genetic risk assessment. You can discuss whether testing is appropriate for your circumstances with a qualified healthcare professional.

Can my partner have the test too?

Yes. TDL provides a partnered carrier screening option. If you are considering testing as a couple, please contact us or confirm the partnered testing requirements before ordering.

How is the sample collected?

The test requires an EDTA whole blood sample. Specific collection requirements will be provided as part of the testing process.

How long will my results take?

TDL currently gives an estimated turnaround time of approximately 4 weeks. Additional testing may affect the turnaround time.

Does the test screen men for X-linked conditions?

No. TDL states that male patients are not screened for X-linked conditions as part of this test.

Does this test diagnose genetic conditions?

No. This is a carrier screening test, not a diagnostic test.

If you have symptoms, a known familial genetic variant or a strong family history of a genetic condition, a diagnostic or targeted genetic test may be more appropriate.

Medical Disclaimer

IMPORTANT MEDICAL INFORMATION

Pan-Ethnic Carrier Screening – is a genetic screening test and is not a diagnostic test.

The test assesses selected genetic variants associated with the conditions included in the current laboratory panel. A positive result does not necessarily mean that you have the associated condition, while a negative result does not completely exclude carrier status or the possibility of an inherited genetic condition.

Genetic testing cannot detect every possible disease-causing variant. The test is limited by the genes, variants, conditions and analytical methods included in the laboratory’s current testing panel.

The results of genetic testing may have implications for you and your biological relatives. Where appropriate, results should be discussed with a qualified healthcare professional or genetic counsellor.

Patient informed consent is required before testing.

This test is not intended to replace medical consultation, genetic counselling or appropriate clinical assessment. If you have a known family history of an inherited condition, a previously identified genetic variant, or specific concerns about your genetic or reproductive risk, please seek advice from an appropriately qualified healthcare professional before ordering.

The Doctors Laboratory (TDL) performs the laboratory testing. Test specifications, panel composition, methodology and turnaround times may change. The current TDL laboratory information should be checked before testing.

This test is not intended to be used as a direct prenatal screening test. Where relevant, further testing and specialist assessment may be required.

Test at a glance

Test	Pan-Ethnic Carrier Screening
Test code	GENE
Laboratory	The Doctors Laboratory (TDL)
Conditions screened	400+ inherited disorders
Inheritance types	Autosomal recessive and X-linked
Sample	EDTA whole blood
Turnaround	Approximately 4 weeks
Consent	Informed consent required
Clinical history	Required
Male X-linked screening	Not included

Ready to order?

Understand your carrier status with comprehensive Pan-Ethnic Carrier Screening performed by The Doctors Laboratory.

The GENE panel screens for more than 400 inherited conditions and can provide valuable information for individuals considering their reproductive and family-planning options.

ORDER PAN-ETHNIC CARRIER SCREENING 

Please read the medical disclaimer and test requirements before ordering.