Targeted genetic carrier screening for inherited conditions associated with Ashkenazi Jewish ancestry

The Beacon Ashkenazi Jewish Carrier Screening Panel is a genetic carrier screening test designed for individuals and couples of Ashkenazi Jewish ancestry.

Performed by The Doctors Laboratory (TDL), the panel analyses genes for pathogenic variants associated with selected recessive inherited conditions that have higher carrier frequencies within the Ashkenazi Jewish population.

The test can provide valuable information for individuals and couples who are planning a pregnancy and want to understand their carrier status before conception.

What is Ashkenazi Jewish Carrier Screening?

Some inherited genetic conditions occur at higher carrier frequencies within particular populations due to historical ancestry and patterns of inheritance.

The Beacon Ashkenazi Jewish Carrier Screening Panel is specifically optimised for people with Ashkenazi Jewish ancestry and screens for selected pathogenic variants associated with recessive genetic disorders.

Being a carrier generally does not mean that you have the associated condition. However, knowing your carrier status can be relevant to reproductive planning, particularly when both biological partners are carriers of variants associated with the same autosomal recessive condition.

TDL states that the panel can be used for both individuals and couples.

Who is this test for?

The Beacon Ashkenazi Jewish Carrier Screening Panel may be suitable for:

• Individuals of Ashkenazi Jewish ancestry who are planning a pregnancy
• Couples of Ashkenazi Jewish ancestry considering starting or expanding their family
• Individuals who want to understand their carrier status before conception
• People with a family history of an inherited condition
• Individuals concerned about a specific condition with a higher carrier frequency within the Ashkenazi Jewish population
• Couples seeking targeted reproductive genetic screening

TDL specifically identifies pre-pregnancy screening and concerns about a family history of particular inherited conditions, including Tay-Sachs disease, as indications for this testing.

If you have a known familial genetic variant or a specific inherited condition in your family, please discuss your circumstances with a qualified healthcare professional or genetic counsellor, as targeted testing may be more appropriate.

Conditions included in the panel

The Beacon Ashkenazi Jewish Carrier Screening Panel includes selected inherited conditions associated with higher carrier frequencies within the Ashkenazi Jewish population.

TDL currently lists the following conditions:

• Bloom syndrome
• Canavan disease
• Cystic fibrosis
• Familial dysautonomia
• Fanconi anaemia group C
• Gaucher disease
• Mucolipidosis IV
• Niemann-Pick disease type A
• Tay-Sachs disease

TDL notes that a full list of diseases covered by the panel is available from the laboratory. The panel and its contents may be updated as genetic testing develops.

Why consider Ashkenazi Jewish carrier screening?

Targeted to Ashkenazi Jewish ancestry

The panel is specifically optimised for individuals and couples of Ashkenazi Jewish ancestry.

Reproductive planning

Carrier screening can provide information that may be relevant when considering pregnancy and family-planning options.

Screening for selected inherited conditions

The panel focuses on genetic conditions known to have higher carrier frequencies within the Ashkenazi Jewish population.

Individual or couple testing

TDL states that screening can be carried out for individuals or couples.

Testing performed by TDL

Your sample is analysed by The Doctors Laboratory (TDL), which provides specialist genetic testing services.

What does the test involve?

The test requires a blood sample for genetic analysis.

Sample requirements

Sample type: EDTA whole blood
Collection tube: Lavender Vacutainer
Sample volume: 4 mL or 6 mL
Test code: GENE
Turnaround time: Approximately 4 weeks

TDL specifies that 6 mL EDTA tubes are used for specific PCR assays. Clinical history must also be provided for the genetic test.

Patient consent

Patient informed consent is required before testing.

What you receive

Following laboratory analysis, you will receive a genetic screening report.

Where a relevant mutation is identified, TDL states that the report includes information such as:

• A synopsis of the disease associated with the finding
• Prognosis and treatment information
• Mode of inheritance
• Risk assessment
• Recommendations for further testing, where appropriate

A carrier result does not necessarily mean that you have the associated disease. Depending on the result and your circumstances, testing of your partner and/or further genetic assessment may be recommended.

What happens if I am a carrier?

If the screening identifies a pathogenic variant associated with one of the conditions tested, you may be identified as a carrier.

For autosomal recessive conditions, carrier status can become particularly relevant when both biological partners carry pathogenic variants associated with the same condition.

In these circumstances, further genetic counselling, partner testing or reproductive options may be discussed with an appropriately qualified healthcare professional.

A carrier result should therefore be interpreted in the context of the individual’s personal and family history.

What if my result is normal?

A normal result means that no relevant variant was identified within the scope and technical limitations of the screening assay.

However, a normal result does not completely rule out carrier status.

TDL specifically notes that a normal result does not exclude the possibility that a patient carries a rare mutation that cannot be detected by the particular assay.

This is an important limitation of all genetic screening and means that the test cannot exclude every possible genetic variant or inherited condition.

Important information for male patients

The panel includes consideration of X-linked conditions within the broader Beacon technology.

However, male patients will not be screened for X-linked conditions, including conditions such as FMR1-related disorders, as part of this carrier screening test.

If an X-linked condition is suspected in a male patient, TDL advises contacting the laboratory or a genetics specialist regarding appropriate diagnostic testing.

How to order

1. Order your test

Select Beacon Ashkenazi Jewish Carrier Screening Panel and complete your order online.

2. Provide the required information

Clinical history and relevant family history should be provided with the genetic test request.

3. Provide your blood sample

A suitable EDTA blood sample is required. Collection instructions will be provided as part of the testing process.

4. Laboratory testing

Your sample will be processed by The Doctors Laboratory (TDL).

5. Receive your report

TDL currently lists a turnaround time of approximately 4 weeks for the Ashkenazi Jewish Carrier Screen.

Testing as a couple

The panel can be used for both individuals and couples.

TDL also lists a Carrier Screen (Ashkenazi Jewish) – Partnered Report. If you are planning to test as a couple, please confirm the partnered testing requirements before samples are submitted.

Partner testing may be particularly relevant where one individual has been identified as a carrier of an autosomal recessive condition.

Frequently Asked Questions

What is Ashkenazi Jewish carrier screening?

It is genetic screening designed to identify selected pathogenic variants associated with inherited conditions that have higher carrier frequencies among people of Ashkenazi Jewish ancestry.

Who should consider this test?

It may be considered by individuals or couples of Ashkenazi Jewish ancestry who are planning a pregnancy or would like to understand their carrier status before conception.

What conditions are included?

TDL currently lists Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anaemia group C, Gaucher disease, mucolipidosis IV, Niemann-Pick disease type A and Tay-Sachs disease.

Is this a diagnostic test?

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

Does being a carrier mean that I have the disease?

Generally, no. Carrier status usually means that an individual has a pathogenic variant associated with an inherited condition without being affected by that condition.

What happens if I am found to be a carrier?

Depending on the condition and your circumstances, partner testing, genetic counselling or further testing may be recommended.

Does a normal result mean I am definitely not a carrier?

No. A normal result cannot exclude all possible pathogenic variants. TDL specifically notes that rare mutations may not be detectable by the assay.

Can couples be tested?

Yes. TDL states that the screening can be performed for individuals or couples and provides a partnered-report option.

What sample is required?

TDL specifies EDTA whole blood collected into a lavender Vacutainer, with a 4 mL or 6 mL sample depending on the testing requirements.

How long do results take?

The current TDL listing gives an estimated turnaround time of 4 weeks.

Do men receive screening for X-linked conditions?

No. TDL states that male patients will not be screened for X-linked conditions as part of this carrier screen.

Can I have this test if I have a known genetic mutation in my family?

If a specific familial variant is already known, a targeted genetic test may be more appropriate. We recommend discussing this with a qualified healthcare professional or genetic counsellor before ordering.

Medical Disclaimer

IMPORTANT MEDICAL INFORMATION

The Beacon Ashkenazi Jewish Carrier Screening Panel is a genetic screening test and is not a diagnostic test.

The test examines selected genes and pathogenic variants associated with the inherited conditions included in the current laboratory panel. Genetic screening cannot detect every possible disease-causing variant or every inherited genetic condition.

A normal or negative result does not completely exclude carrier status. TDL states that a patient may carry a rare mutation that cannot be detected by the particular assay.

A positive carrier result does not necessarily mean that the individual has the associated condition. The implications of a result depend on the specific gene, variant, condition and family circumstances.

Genetic test results may have implications for the individual being tested and their biological relatives. Where appropriate, results should be discussed with a qualified healthcare professional or genetic counsellor.

Patient informed consent is required before testing.

This screening test is not intended to be used as a direct prenatal screening test. TDL states that both parents must be confirmed carriers for a particular disease before prenatal diagnosis can be offered.

Male patients will not be screened for X-linked conditions as part of this test. If an X-linked condition is suspected in a male patient, appropriate diagnostic testing should be discussed with the laboratory or a genetics specialist.

The panel composition, genes, variants, methodology and laboratory requirements may change as genetic testing technology develops. The current laboratory specification should therefore be checked before testing.

The Doctors Laboratory (TDL) performs the laboratory testing. Information provided on this website is for general information and does not replace medical advice, genetic counselling or clinical assessment.

Test at a glance

Test information	Details
Test name	Beacon Ashkenazi Jewish Carrier Screening Panel
TDL test name	Carrier Screen (Ashkenazi Jewish)
Laboratory	The Doctors Laboratory (TDL)
Test code	GENE
Suitable for	Individuals and couples of Ashkenazi Jewish ancestry
Conditions	Selected inherited recessive disorders
Sample	EDTA whole blood
Tube	Lavender Vacutainer
Sample volume	4 mL / 6 mL
Turnaround time	Approximately 4 weeks
Informed consent	Required
Clinical history	Required
X-linked screening in males	Not included

Information in this table is based on TDL’s current test listing.

Order Beacon Ashkenazi Jewish Carrier Screening

Understand your carrier status before pregnancy with targeted genetic screening designed for Ashkenazi Jewish ancestry.

The Beacon Ashkenazi Jewish Carrier Screening Panel can help provide information about selected inherited conditions and may support informed reproductive planning.

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