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 for 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.
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.
Adventia Panels
1) FOCUS PANELS – Single Genetic diseases Test
Here there are Six individual panels 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 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
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3) COMPREHENSIVE PANEL – 229 Genetic diseases
- One Partner – £600.00
- Both Partners – £1000.00
This is a single test panel that detects a group of 229 genetic diseases/disorders that have 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, hematological, muscular, immunological, neurological, and pulmonary diseases amongst others.
To have a full list of the conditions tested in this panel please View More
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HOW DOES Adventia CARRIER SCREENING helps people who are planning for a family?
Adventia carrier screening can help couples to 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 counseling 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 offsprings . 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 effect on our health.
What are genetic diseases? why get tested?
Genetic diseases are caused by a in 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, prevent if 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 degree 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
- HorizonTMis 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 to know about these blood test call 📞 07984572767 to speak with the 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
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 with 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 to be 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