Carrier Screening Test (Adventia)

ADVENTIA – Carrier Screening

Certain mutations (genetic alterations) can develop in anyone's body. Some mutations may have little effect on our health or development, but others may result in a genetic illness.

When a person has a mutation in one of their genes but the mutation is not strong enough to be manifested, that person is a recessive disease carrier. Two carriers of the same recessive disease can have a child who is aff­ected, if the child inherits the mutation from both of them.

Carriers are unaware of their carrier status and the chance of transferring a mutation to their offspring as they are asymptomatic. In reality, many recessive disease variants can be passed down over numerous generations without causing clinical symptoms. It is hard to determine if you are a recessive disease carrier unless you have been tested.

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

• Carrier Screening Test Kit (Adventia) is a Buccal Swab
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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

Duchenne Muscular Dystrophy – £199

Fragile X – £199

Spinal Muscular Atrophy – £159

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

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.

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

• From 10 weeks if carried out during pregnancy
• Pain free sample collection using a Buccal cheek swab from each person being tested
• No risk to mother or fetus (if carried out during pregnancy)
• Validated for singleton and twin pregnancies
• Applicable for IVF pregnancies
• Results within 14 – 21 working days from the sample arriving in the lab

Adventia Brochure

Adventia Patient Leaflet

Adventia Core Panel

Adventia Comprehensive Panel

Adventia Focus Panel

Adventia FAQ's