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 minimise 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 a offspring who will be affected.
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
2) GUIDELINES-BASED PANEL – 19 genetic diseases - £ 500
This is a single test panel that detects a group of 19 genetic diseases recommended by international genetic organizations like American College of Medical Genetics and American College of Obstetricians and Gynecologists due to their 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
3) COMPREHENSIVE PANEL – 229 Genetic diseases
- One Partner - £600.00
- Both Partners - £1000.00
This is a single test panel that detects for a group of 229 genetic diseases / disorders that have moderate to severe, well-defined phenotype 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 amongst others.
To have a full list of the conditions tested in this panel please View More
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 offsprings , and it give a insight into the reproductive choices. By testing all moderate to severe diseases that could severely affect 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, therapies where 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 turn-around 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 quality of life
- may be 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 the 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 individual or couple when they wish to learn more about their genetic information to minimize the risk of transmitting a genetic disease to their off springs . Adventia can also be done during pregnancy if prospective parents wish to know whether their child has a risk of having a genetic disease.