Advanced DNA Carrier Screening: Comprehensive Genetic Insights for Family Planning
Advanced Carrier Screening tests identify couples who are at risk of passing inherited disorders to their children. Expectant parents, or couples planning a family, may be at risk for passing on severe genetic diseases to their offspring. If both parents are carriers for an autosomal recessive or X-linked condition they have a 1 in 4, or 25%, chance of having an affected child.
To secure your appointment at Miracle Inside Diagnostic Scan Centre, the following payments are required:
- Deposit: A non-refundable deposit of £30.
- Phlebotomy Charges: An additional fee of £25 is charged for phlebotomy services and DHL courier service to timely deliver the blood to the laboratory.
These payments must be made when booking to confirm your appointment. The remaining balance for your services can be paid through our website after your appointment. This ensures a smooth and efficient process for both our staff and patients.
For any questions or assistance regarding payment, don’t hesitate to get in touch with our customer service team at 01134608760
The GeneScreen® and Adventia Carrier Screening test provides a closer look at genes, to see if the couple is at risk of passing a hereditary genetic disorder to their offspring.
We provide a same-day blood result service for some blood tests (Monday – Friday, excluding Bank Holidays). A £ 25 for Phlebotomy + Courier charge will be applied for all Bloods. Please inform us at the time of booking if you require same-day results.
GENESCREEN® – Comprehensive Carrier Screening for Hereditary Diseases
What is GeneScreen®?
GeneScreen® is a cutting-edge carrier screening test designed to detect genetic conditions that may be inherited and passed on to children. Utilizing advanced Next-Generation Sequencing (NGS) technology, the test comprehensively analyzes both nuclear and mitochondrial (mtDNA) genomes. With its extensive panel, GeneScreen® provides a more thorough evaluation of genes and the hereditary diseases associated with them.
Why is GeneScreen® Important?
Carrier screening is an essential tool in reproductive care, providing early insight into potential genetic risks before conception or during pregnancy. Studies show that in 80% of couples who have children born with genetic recessive disorders, there is no prior family history of the condition. This highlights the importance of genetic testing for all couples, regardless of their family history. On average, each person carries 2.8 pathogenic variants, and 24% of individuals are carriers of at least one gene mutation.
If both parents are carriers of the same recessive genetic condition, there is a 25% chance of passing the condition to their child. Even if a person is a carrier, they may not know it without testing, which is why genetic testing is crucial for making informed reproductive decisions.
Who Should Consider GeneScreen®?
GeneScreen® is recommended for individuals and couples in the following situations:
- Couples planning to start or expand a family: Whether you are trying to conceive naturally or through assisted reproductive techniques, knowing your carrier status is a critical part of preconception health.
- Couples with ongoing pregnancies: For those already expecting, GeneScreen® can help assess and reduce the risk of passing on genetic conditions.
- Couples using gamete donation: For those choosing egg or sperm donors, the test helps ensure the donor is not a carrier of the same genetic conditions as one of the parents, reducing reproductive risks.
- Individuals with a family history of genetic conditions: If you or your partner have a family history of inherited diseases, GeneScreen® can provide valuable information on your carrier status.
- Ethnically at-risk populations: Certain populations may be at a higher risk for specific genetic disorders, making carrier screening especially important.
GeneScreen® Testing Options
GeneScreen® offers multiple levels of testing, each designed to meet different needs based on individual or family health history.
- GeneScreen Focus: A targeted analysis of 30 genes, providing a basic overview of potential hereditary conditions.
- Focus – £375
- Focus for Couple – £650
Please click here to access the list of genes screened
- GeneScreen Protect: A more comprehensive test that analyzes over 120 genes linked to hereditary diseases, offering a broader risk assessment.
- Protect – £450
Please click here to access the list of genes screened
- GeneScreen Easy Donar: This test expands to include over 400 genes, offering an even more detailed analysis of genetic risks.
- Easy Donar– £650
Please click here to access the list of genes screened
- GeneScreen Complete: The most extensive test, analyzing over 2,000 genes for a complete view of hereditary conditions.
- Complete – £850
- Complete for Couple – £1500
Please click here to access the list of genes screened
What Does GeneScreen® Test For?
GeneScreen® allows couples to learn if they carry genes associated with serious inherited diseases. The test screens for over 700 hereditary conditions, including common diseases such as cystic fibrosis, sickle cell anemia, thalassemia, and hereditary deafness. The test analyzes 550 genes that have been selected based on:
- The population incidence of each disease
- The clinical significance of the disease at birth
Testing Process
GeneScreen® uses the latest technology to provide a comprehensive analysis of your genetic makeup:
- Sample Collection: A simple blood sample or buccal swab is collected and sent to our laboratory.
- DNA Analysis: DNA is isolated from the sample and amplified using PCR. The 550 genes in the panel are then fully sequenced using state-of-the-art Next-Generation Sequencing (NGS) technology with Illumina sequencers.
- Genetic Analysis: Advanced bioinformatics tools analyze the DNA to identify any mutations in the tested genes.
Understanding Your Results
- Negative Result: No mutations were detected in the genes tested. This suggests you are not a carrier for the conditions included in the panel.
- Positive Result: One or more mutations were detected in the tested genes. These may be classified as:
- Known Prognostic Outcome: Associated with a known disease or condition.
- Benign Outcome: Mutations that are commonly found in healthy individuals and do not cause disease.
- Uncertain Outcome: Mutations whose clinical significance is not yet fully understood.
In the case of a positive result, our genetic counselors are available to guide you through the findings and provide expert advice. If both partners carry a pathogenic mutation in the same gene, our geneticists are available for consultation to discuss the implications for future pregnancies.
How to Book Your GeneScreen® Test
Booking your GeneScreen® test is simple and straightforward. Here’s how you can get started:
- Consultation: Schedule an initial consultation with one of our genetic counselors. They will review your medical and family history to help determine which testing option is best for you.
- Choose Your Test: Based on your consultation, you can select the appropriate GeneScreen® package—Focus, Protect, Easy, or Complete.
- Sample Collection: After selecting your test, you will provide a sample (blood or buccal swab), which can be collected at one of our partner locations or via an at-home collection kit.
- Testing & Analysis: Your sample will be sent to our certified laboratory, where it will undergo DNA sequencing and analysis.
- Receive Results: Once the analysis is complete, you will receive your results in 4-6 weeks. Our genetic counselors will provide you with a comprehensive report and be available to answer any questions you may have.
Why Choose GeneScreen®?
- Comprehensive Testing: GeneScreen® covers a broad range of genetic disorders and provides a thorough analysis of the most relevant genes.
- Expert Guidance: Our team of genetic counselors will walk you through the entire process, ensuring you fully understand your results and their implications for your reproductive health.
- Peace of Mind: With GeneScreen®, you’ll gain clarity on potential genetic risks, empowering you to make informed decisions for your future family.
Get Started Today
To book your GeneScreen® test or schedule a consultation, contact us via our online booking system or call us at 01134608760 . We’re here to support you throughout the entire process and help you make the best decisions for your family’s future.
Take control of your reproductive health and ensure the best possible start for your family with GeneScreen®.
Adventia Panels
Adventia is a new-generation Genetic Carrier Screening offered by NIPD Genetics Laboratories ( ISO 13485:2016 and ISO 9001:2015 certified facility) are CAP-accredited and certified under the Clinical Laboratory Improvement Amendments (CLIA) . Adventia can be done by anyone to check for carriers of a genetic disease to minimize their risk of transmitting the disease to next-generation children. Basically, Carriers are not affected, and show no symptoms of a disease, but could have offspring who will be affected.
1) FOCUS PANELS – Single Genetic Diseases Test
Here there are Six individual panel tests for more popular and common severe genetic diseases:
- A-Thalassemia – £215.00
- B-Haemoglobinopathies – £215.00
- Cystic Fibrosis – £280.00
- Duchenne Muscular Dystrophy – £235.00
- Fragile X – £235.00
- Spinal Muscular Atrophy – £215.00
Please Get your Private Blood tests booked by clicking
2) GUIDELINES-BASED PANEL – 19 genetic diseases – £ 500
- One Partner – £500.00
- Both Partners – £800.00
This is a single test panel that detects a group of 19 genetic diseases recommended by international genetic organizations like the American College of Medical Genetics and the American College of Obstetricians and Gynecologists due to the high incidence and severity of these genetic disorders. The Guidelines Based panel includes all 6 diseases tested in the Focus panels, and other diseases including Phenylketonuria, Fanconi Anemia Group C, and Tay-Sachs disease.
To have a full list of the conditions tested in this panel please View More
Please Get your Private Blood tests booked by clicking
3) COMPREHENSIVE PANEL – 229 Genetic diseases
- One Partner – £600.00
- Both Partners – £1000.00
This single test panel detects a group of 229 genetic diseases/disorders with moderate to severe, well-defined phenotypes and high cumulative frequency.
The Comprehensive panel includes all diseases of the guidelines-based panel and covers a wide range of metabolic, cardiovascular, haematological, muscular, immunological, neurological, and pulmonary diseases.
To have a full list of the conditions tested in this panel please View More
Please Get your Private Blood tests booked by clicking
HOW DOES Adventia CARRIER SCREENING help people who are planning for a family?
Adventia carrier screening can help couples minimize the risk of transmitting a genetic disease to their offspring, and it gives insight into reproductive choices. By testing all moderate to severe diseases that could severely affect the quality of life,
- Genetic counselling on the potential impact of the disease and your reproductive options
- Prenatal diagnosis during pregnancy to know whether your offer spring will be affected
- In-vitro fertilization (IVF) and preimplantation genetic testing (PGT-M) to make sure your baby will not be affected
- Fertility treatments and choosing a compatible gamete donor without the same mutation
- Early intervention and therapies were available, and better clinical management for affected children
WHO can have Adventia CARRIER SCREENING?
- Couples planning to start their families and want to know about their carrier status
- Any individual or couple going through assisted reproduction, including IVF
- Sperm and oocyte donors, and recipients of sperm or oocyte donation
- Couples who are already pregnant and want to know whether their child has a risk of having a genetic disease
- High-risk population groups for specific diseases
- People with a family history of a genetic mutation
- Any individual wishing to know more about their genetic background
WHY CHOOSE Adventia CARRIER SCREENING?
Adventia was specifically designed to be a beneficial and comprehensive test for everyone, regardless of ethnic background and family history. It is based on a novel and powerful technology and can provide meaningful results in a short turnaround time to help you minimize your risk of transmitting a genetic disease to your children. The diseases tested by Adventia:
- have moderate to severe phenotype (characteristics)
- are high in carrier frequency
- can severely compromise the quality of life
- maybe manageable through early interventions
WHAT DOES Adventia TEST FOR?
Adventia screens for autosomal recessive and X-linked diseases. Carriers of recessive diseases have one healthy gene and one gene with a mutation.
Autosomal Recessive Diseases affect chromosome pairs 1 to 22. If both parents are carriers, they have:
- 1 in 4 chance of having an unaffected child
- 1 in 2 chance of having a child who is also a carrier, who has inherited the mutation from only one parent
- 1 in 4 chance of having an affected child, who has inherited mutations from both parents.
X-Linked Diseases affect the X chromosome, found on the 23rd chromosome pair which determines gender.
- 1 in 2 chance of having a carrier daughter. Female carriers may or may not exhibit disease characteristics due to X-inactivation*
- 1 in 2 chance of having an affected son. Males who have inherited the mutation are always affected, as they only have one X chromosome.
*X-inactivation is the process of randomly ‘silencing’ one of the two X chromosomes in females to avoid having double the ‘dosage’ of protein-coding genes
International genetic organizations like the American College of Obstetrics and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) recommend that carrier screening information is offered to all people planning to start a family.
| DISEASE | CARRIER FREQUENCY | POPULATION |
| Cystic fibrosis | 1 in 45 | General population |
| Alpha thalassemia | 1 in 25 | General Population |
| Beta thalassemia | 1 in 28 | Mediterranean |
| Spinal muscular atrophy | 1 in 35 | Caucasian |
WHEN SHOULD I GET TESTED?
Adventia carrier screening can be done for all individuals or couples when they wish to learn more about their genetic information to minimize the risk of transmitting a genetic disease to their offspring. Adventia can also be done during pregnancy if prospective parents wish to know whether their child has a risk of having a genetic disease.
Please Get your Private Blood tests booked by clicking
Frequently Asked Questions
What is genetic testing?
Genetic testing identifies changes in the DNA. Some changes have no effect on health and development, while others can cause genetic diseases with moderate to severe effects on our health.
What are genetic diseases? why get tested?
Genetic diseases are caused by a gene. Variants are also known as mutations. Depending on the gene involved, diseases are inherited in different patterns
Autosomal Dominant Diseases : The mutation is present in only one gene copy and is sufficient to cause the disease to be expressed in the person with the mutation. Examples: Huntington’s disease, Neurofibromatosis
Autosomal Recessive Diseases : The mutation is present in only one gene copy but it is not ‘powerful’ enough to cause the disease to be expressed in the individual with the mutation, who is known as a ‘carrier’. Carriers are healthy, but two carriers of the same mutation could have a child who is affected if they both pass on their mutated gene copy. Examples: Cystic fibrosis, Beta-thalassemia
X-linked diseases : The mutation is present on the X chromosome, one of the two chromosomes that define gender. Females have two X chromosomes, so when they inherit a mutation in one of their X chromosomes, they are carriers with or without exhibiting symptoms (see question 7). Males have only one X chromosome, so when they inherit a mutation in their X chromosome, they are affected. Examples: Duchenne Muscular Dystrophy, Fragile X
How are diseases inherited?
A healthy person has two pairs of 23 chromosomes in all the cells of their body (except for the gametes, egg or sperm, where they have just 23 chromosomes). Half of each pair is inherited from their mother and the other half from their father. Chromosomes have hundreds of small ‘sections’ on them called genes. Genes have the ‘recipe’ of our genetic material (DNA) and are responsible for executing it properly; they make up our physical characteristics and tell our bodies how to work and function properly. Sometimes, instead of the correct gene, a gene with a mutation (change) will be inherited instead. Depending on the mutation and where it occurs, mutations could have no effect, or they could cause genetic diseases by changing how the gene works, preventing it from working properly or from working altogether.
What is carrier screening?
Carrier screening is a test that can be taken by any individual to check if they are carriers of a genetic disease.
What is a carrier?
A carrier is an individual who has a mutation in one of their two gene copies. Carriers are not affected, and they don’t show any signs or symptoms of a disease. Two carriers of the same mutation could have a child who is affected by the genetic disease if they both pass on the gene carrying the mutation.
What are monogenic diseases?
Monogenic diseases are caused by a mutation in a single gene. They are also known as single-gene diseases.
Why do X-linked diseases affect males and females differently?
As males have one X and one Y chromosome, when their X chromosome has a mutation the disease always manifests. Females have two X chromosomes, and when one of their X chromosomes has a mutation they are carriers of an X-linked disease. They may exhibit some symptoms of the disease or no symptoms at all, due to ‘X-inactivation’ – a mechanism that always ‘shuts off’ one of the two X chromosomes in females so they don’t have twice the number of genes as males, which would be toxic. As this process is random in the female cells, the X chromosome with the mutation can be silenced in varying degrees in female carriers; thus explaining the symptom variability shown in X-linked diseases.
Horizon Advanced DNA carrier screening – £450.00
(Pre-conception ) test for up to 274 autosomal recessive and X-linked genetic conditions
- HorizonTM is a DNA screening test that provides information on patients´ chance of having a child with a genetic condition.
- Knowing the carrier status of genetic conditions allows patients to make more informed reproductive decisions.
- Horizon´s technology provides comprehensive screening results for commonly screened conditions, like Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X, Spinal Muscular Atrophy
What is carrier screening?
Carrier screening is a simple blood test that determines if you are a carrier of one or more autosomal recessive or X-linked genetic conditions.
To Contact us for more information about these blood tests call 📞 07984572767 to speak with a Healthcare Professional
What does it mean to be a carrier?
A carrier of a genetic condition has a change (or “mutation”) in one gene copy of a pair of genes.
- Most people are carriers of at least four to six genetic conditions
- Most carriers are healthy because the other copy of the gene works normally
- Carrier couples are at the increased chance to have a child with a genetic condition
- Knowing the carrier status of genetic conditions allows patients to make more informed reproductive decisions
The test gives 4-panel options
- Horizon 4 panel (CF, SMA, Fragile X, DMD) – Cystic fibrosis + Duchenne muscular dystrophy + spinal muscular atrophy + fragile x – £450.00
- Horizon 27 Panel (Pan-ethnic Standard) – Adds hemoglobinopathies (including both alpha and beta thalassemias) – £490.00
- Horizon 106 panel ( Comprehensive Jewish )- Broad coverage of patients of both Ashkenazi and Sephardic ancestry, with more than 100 conditions screened, with a combined likelihood of 1:2 – £560.00
- Horizon 274: panel ( Pan-ethnic Extended) – Large panel of 274 conditions covering everything here and more ( https://www.natera.com/horizon-carrier-screen ) – £650.00
Please Get your Private Blood tests booked by clicking
What Horizon screens for
Horizon screens for up to 274 genetic conditions. Please ask your doctor and discuss the choice for carrier screening. This may include screening for a few or all of the conditions available through Horizon. Horizon´s technology provides comprehensive screening results for commonly screened conditions, like Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X, Spinal Muscular Atrophy
This document addresses de novo dominant disorders specifically at the single nucleotide polymorphism (SNP) level. This analysis is especially pertinent for cases involving advanced paternal age, defined as 35 years or older, along with non-specific ultrasound findings that may include characteristics such as shorter long bones.
For each of the conditions addressed, the accompanying list provides a comprehensive overview, including:
1. **Genes Analyzed**: A detailed enumeration of the genes that are subject to analysis for each specific disorder.
2. **Detection Rates**: Information on the likelihood of identifying these disorders through genetic testing.
3. **Types of Ultrasound Findings**: A summary of the ultrasonic indicators that may suggest the presence of these disorders.
4. **Clinical Actions**: Recommendations for follow-up actions or interventions based on the findings.
This structured information ensures that healthcare professionals can make informed decisions and provide appropriate care based on genetic analysis and ultrasound results.
Please Click here to Download the Horizon Brochure
Please Click here to Download the HORIZON Details of the Genes tested
To speak to our healthcare professional to know more about these blood tests, call 📞 01138301371.
Check the following website for more information:
https://www.natera.com/vistara
Please follow the link to see the 274 genetic conditions
https://www.natera.com/horizon-carrier-screen/what-it-screens
How are genetic conditions passed down from carrier parents to children?
- Autosomal recessive inheritance – If a woman and her partner are both carriers of the same condition, they have a 1-in-4, or 25%, chance with each pregnancy of having a child affected with the condition.
- X-linked inheritance – If a woman is a carrier of an X-linked condition, she has a 1-in-2, or 50%, chance with each pregnancy of passing the gene mutation to her child. If the child is a boy, and he inherits the mutation, he will be affected by the condition.
When should a patient have carrier screening?
Horizon can be performed at any time before or during pregnancy. Some people may want to know their carrier status before pregnancy to inform reproductive decisions.
What do Horizon results tell me, and when?
Results are returned in about 2-3 weeks.
- A positive result means that a disease-causing or likely disease-causing mutation was detected. It is important to determine the partner’s carrier status, too, to understand the chances of passing a genetic condition to the child.
- A negative result means that no mutations for the conditions screened were found. While a negative result indicates a significantly lower chance of being a carrier, carrier screening cannot detect all disease-causing mutations.
What are the reproductive options if a couple is a carrier?
If partners are both carriers of the same autosomal recessive condition, or if one partner is a carrier of an X-linked condition, the couple may consider:
- Natural conception, with an option of prenatal testing, such as amniocentesis or chorionic villi sampling, for the specific condition
- In vitro fertilization(IVF) with preimplantation genetic diagnosis (PGD)
- Use of a sperm or egg donor who is not a carrier for the condition (if allowed in your country)
- Adoption
Genetic Counsellors :
Patients have access to our genetic counsellors (Pre and Post Test ). please contact us for allowing us to book online a free 15-minute call to discuss a result with a board-certified genetic counsellor
