Adventia – Carrier Screening Tests

Description

ADVENTIA – Carrier Screening

Anyone can carry certain mutations (genetic changes) in their body. Some mutations may have no eff­ect on our health and development, while others can cause a genetic disease.

When an individual has a mutation in one of their genes, but the mutation is not powerful enough to be expressed, that individual is a carrier of a recessive disease.

Two carriers of the same recessive disease can have a child who is aff­ected, if the child inherits the mutation from both of them.

As carriers are asymptomatic, they are unaware of their carrier status and the risk of passing a mutation to their children. In fact, many mutations for recessive diseases could be inherited via multiple generations without clinical manifestation. Unless you have been tested, it is impossible to know whether you are a carrier of a recessive disease.

Thus, knowing your carrier status can provide information regarding your reproductive options and minimize the risk of transmitting a genetic disease to your children.

DISEASE CARRIER FREQUENCY POPULATION:

• Cystic fibrosis 1 in 45 – General population
• Alpha thalassemia 1 in 25 – General population
• Beta thalassemia 1 in 28 – Mediterranean population
• Spinal muscular atrophy 1 in 35 – Caucasian population
• 1 in 4 people is a carrier of a genetic disease

lnternational genetic organisations like the American College of Obstetrics and Gynaecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) recommend that carrier screening is offered to all people planning to start a family.

WHO IS THIS AIMED AT:

• 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

WHEN SHOULD I GET TESTED?

Adventia carrier screening can be performed by any individual or couple when they wish to learn more about their genetic information to minimise the risk of transmitting a genetic disease to their children.

Adventia can also be done during pregnancy if prospective parents wish to know whether their child has a risk of having a genetic disease.

There are 6 individual focus panels for high frequency and severe genetic diseases:

A-Thalassemia – £159

B-Haemoglobinopathies – £159

Cystic Fibrosis – £215
Please note: Only tests for up to 75% of the variants of Cystic Fibrosis.

Duchenne Muscular Dystrophy – £199

Fragile X – £199

Spinal Muscular Atrophy – £159

Please click here to see Focus Panel

GUIDELINES BASED PANEL:

Single panel that detects 19 genetic diseases recommended by international genetic organizations like ACMG and ACOG† due to their high incidence and severity. It includes all diseases tested in the Focus panels, and others like Fanconi Anemia Group C, Phenylketonuria and Tay-Sachs disease. For full panel list please click here

1 Person – £499

Both Partners** – £799

**Aimed at Couples planning to start their families and want to know about their carrier status, any individual or couple going through assisted reproduction, including IVF and Couples who are already pregnant and want to know whether their child has a risk of having a genetic disease

Please click here to see Guidelines Based Panel

COMPREHENSIVE PANEL:

Single panel for 229 diseases 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 and haematological diseases amongst others.

1 Person – £659

Both Partners** – £999

**Aimed at Couples planning to start their families and want to know about their carrier status, any individual or couple going through assisted reproduction, including IVF and Couples who are already pregnant and want to know whether their child has a risk of having a genetic disease

Please click here to see Comprehensive Panel

Pain free sample collection via a Buccal cheek swab – can be carried out in the comfort of your own home

Results available 14 – 21 working days from sample arriving in the lab

We always recommend that results are discussed with your Healthcare Professional

Please take the time to familiarise yourself with our NIPT FAQs before placing your order

We always recommend that results are discussed with your Healthcare Professional

Please click here to view Brochure