Private Gene Carrier Screening for Men and Women

Horizon genetic carrier screening helps couples determine the risk of passing on serious genetic conditions to their child. Carrier screening can be performed either before or during pregnancy and is available to men and women at MUMS Solihull.

All of us are carriers of at least one genetic condition.1 Most carriers are healthy with no family history, but they are at risk of passing on a genetic condition to their child. Carrier screening is a genetic test that identifies if you carry a gene with a change, or variant, that can impact your child. When performed before conceiving, genetic carrier screening can provide actionable knowledge and the opportunity to pursue alternative reproductive options. Carrier screening during pregnancy can help couples decide on prenatal or infant diagnostic testing, and if necessary, help them prepare emotionally, medically, and financially for a baby affected by a genetic condition.

• Results – 21 Days.
• Results – With a Horizon Geneticist remotely
• Pre Test Counselling available
• Testing is for men and women aged 18 and above

Is carrier screening right for me?

Most people do not know they are a carrier for an inherited genetic condition until they have a child with the condition. Everyone can be a carrier of a genetic condition regardless of ethnicity, family background, or family history.

Genetic carrier screening can help you and your partner learn if you are at risk of passing on a genetic condition to your child. With Horizon carrier screening, you screen for one or more genetic conditions with one simple test. Before undergoing carrier screening, it may be helpful to learn more about genetics and inheritance of genetic conditions.

Horizon provides comprehensive screening using the latest technology, including next-generation sequencing. Horizon™ screens for genes associated with specific inherited genetic conditions, including commonly screened conditions such as cystic fibrosis, spinal muscular atrophy, fragile X syndrome, and sickle cell anaemia.

HORIZON 4 CONDITIONS PANEL

The Horizon 4 panel by Natera is a genetic carrier screening test designed for prospective parents to assess the risk of passing on four specific, severe inherited genetic conditions to their children. The panel tests for the following four conditions:

• Cystic Fibrosis (CF): A progressive genetic disease that causes persistent lung infections and limits the ability to breathe over time.
• Spinal Muscular Atrophy (SMA): A genetic disease that affects the nervous system and voluntary muscles (those used for crawling, walking, head control, and swallowing).
• Fragile X Syndrome: The most common inherited cause of intellectual disability and autism spectrum disorder.
• Duchenne Muscular Dystrophy (DMD): A severe type of muscular dystrophy that primarily affects boys, causing muscle weakness and loss of muscle mass.

These diseases are typically inherited in a recessive pattern, meaning both parents must be carriers for their child to be at risk, or they are X-linked (passed down through the mother). Most carriers are healthy and show no symptoms of the disease themselves.

How It Works

The Goal:

Most carriers are perfectly healthy and have no family history of these diseases. This test identifies whether you carry a gene mutation for these conditions.

The Inheritance:

Because these are mostly recessive conditions, a child typically only develops the disease if both biological parents are carriers of the same condition (yielding a 25% chance of the child inheriting it in those pregnancies).

The Process:

It involves a simple blood test. Results are usually returned within two to three weeks.

Who Should Get Tested?

• Couples planning to start a family.
• Individuals or couples who are already pregnant.
• Those with a known family history of these genetic conditions.

HORIZON 27 CONDITIONS PANEL

The Horizon 27 carrier screen is a genetic test developed by Natera that screens for 27 severe and clinically actionable genetic diseases. It is primarily designed for prospective parents to determine if they carry hidden gene changes that could be passed on to their children.

What It Tests For

The panel primarily targets autosomal recessive and X-linked conditions:

• Cystic fibrosis
• Spinal muscular atrophy (SMA)
• Fragile X syndrome
• Tay-Sachs disease
• Sickle cell anaemia (and other beta-hemoglobinopathies)
• Duchenne and Becker muscular dystrophy
• Bloom syndrome
• Galactosemia
• Gaucher disease
• Autosomal recessive polycystic kidney disease
• Adrenoleukodystrophy (X-Linked)

How It Works & Why It Matters

Inheritance: Most are recessive, requiring both parents to be carriers to pose a risk to the child. X-linked conditions depend on the mother's carrier status.

Testing Process: The test involves a simple blood sample and can be done before or during pregnancy.

If You Test Positive: If both partners are identified as carriers for the same condition, there is a 25% chance of an affected child in each pregnancy.

The Result: Most people are healthy carriers for at least one genetic condition. A carrier means you have a gene change but do not have the disease yourself.

Risk Evaluation: A child will only be at risk for the disease if both biological parents are carriers for the same condition. If you test positive, your reproductive partner can also be screened to evaluate your baby's exact level of risk.

HORIZON 274 CONDITIONS PANEL

The Horizon 274 panel by is an extended, pan-ethnic genetic carrier screening test.

It tests an individual’s DNA to determine if they carry gene variants that cause autosomal recessive or X-linked genetic conditions, allowing prospective parents to assess the risk of passing these disorders to their biological children.

While designed to test for up to 274 specific genetic conditions, the exact list of diseases can occasionally be customized. The comprehensive panel generally covers the following core categories:

Common / Severe Conditions: Includes universally screened diseases such as Cystic Fibrosis, Spinal Muscular Atrophy (SMA), Fragile X syndrome, and Duchenne muscular dystrophy (DMD).

Hemoglobinopathies: Tests for genetic blood disorders like sickle cell anaemia and alpha- or beta-thalassemia.

Metabolic and Endocrine Disorders: Tests for numerous conditions that affect the body's ability to process proteins, fats, and carbohydrates, such as Tay-Sachs disease, Galactosemia, and Gaucher disease.

Neurological and Muscular Disorders: Screens for conditions like Canavan disease and various forms of muscular dystrophy.

Because carrier conditions are recessive, carriers are typically healthy and show no symptoms, but they can pass the condition on if both biological parents carry the same genetic variant.

HORIZON 613 CONDITIONS PANEL

The Horizon 613 gene panel is an extensive, pre-pregnancy or prenatal carrier screening test designed to identify whether you and your partner carry hidden gene changes that could be passed on to your child.

What the Panel Covers

Unlike basic panels that screen for only a handful of fundamental disorders, the 613 panel uses next-generation DNA sequencing to test for 613 different inherited autosomal recessive and X-linked conditions.

These include, but are not limited to:

• Commonly screened conditions: Cystic fibrosis, Fragile X syndrome, spinal muscular atrophy (SMA), and sickle cell anaemia.
• Metabolic and endocrine disorders: Phenylketonuria (PKU), galactosemia, and Tay-Sachs disease.
• Muscular dystrophies: Duchenne and Becker muscular dystrophy.
• Hundreds of rare, severe paediatric and genetic diseases (e.g., hemoglobinopathies, Fanconi anaemia, and cystic kidney diseases).

Why the 613 Panel is Used:

• Risk Identification: It checks if you are an asymptomatic carrier of a disease. For autosomal recessive conditions, your baby is only at risk if both biological parents carry a mutation for the exact same gene.
• Family Planning: If you test positive as a carrier, your reproductive partner can subsequently be tested for matching conditions. If both parents are carriers, there is a 25% chance in each pregnancy that the child will inherit the condition.
• Actionable Information: Knowing your carrier status allows you and your medical team to prepare for medical interventions, specialized care, or reproductive alternatives (like IVF) before or during pregnancy.

How the Process Works

The test requires a simple blood sample and typically delivers results within roughly two weeks. Because carrier screening results can be complex, genetic counselling is available to help you interpret the results and plan your next steps.

What is Horizon carrier screening?

It is common for people to be carriers of at least one genetic condition. Most carriers are healthy with no family history, but they are at risk of passing on a genetic condition to their child. Horizon carrier screening is a genetic test performed before or during pregnancy that identifies if you carry a gene with a change, or variant, that can impact your child.

What’s next if I am a carrier for a genetic condition?

Patients who are planning to conceive in the future

If you are a carrier for a specific recessive condition, your partner may want to have carrier screening for the condition ordered by a healthcare professional. Your doctor or a local genetic counselor can help decide which carrier screen is best for your partner. If your partner screens positive for the same condition that you are a carrier for, different reproductive options can be considered.

If you are a carrier for an X-linked condition, you may want to speak with your doctor or a genetic counselor about your Horizon test results. Partner screening is not often recommended as a next step if you are a carrier for an X-linked condition as only the mother needs to be a carrier for the condition to pass it along to her child.

For many couples, knowing their carrier status before their baby is conceived enables them to make informed reproductive decisions that can impact their child’s future. Couples at risk for having a baby with a recessive or an X-linked condition have the opportunity to consider:

• Natural pregnancy with or without prenatal diagnosis such as chorionic villus sampling (CVS) or amniocentesis
• Other reproductive options such as: preimplantation genetic testing (PGT) with in vitro fertilization (IVF) to test and then transfer embryos free of the disease that both partners carry, use of a sperm or egg donor, or adoption

Pregnant patients

If you are a carrier for a specific recessive condition, your partner may want to have carrier screening for the condition ordered by a healthcare professional.

If you are a carrier for an X-linked condition, partner screening is not often recommended as a next step as only the mother needs to be a carrier for the condition to pass it along to her child.

Carrier screening during pregnancy can have life-altering benefits: It can help couples decide on prenatal diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis, and if necessary, help them prepare emotionally, medically, and financially for a baby with a genetic condition.

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