Adventia CARRIER SCREENING

Adventia CARRIER SCREENING £215

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 reccesive

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

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.

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.

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