Your health – the genetic connection

A large variety of rare diseases or disorders have an underlying genetic cause. Understanding the genetic basis of this can be hugely beneficial for diagnosis, and enables your doctor to provide you and your family with the very best advice, treatment and care.

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  1. Disease Types

Metabolism

What are your symptoms?

There are hundreds of different genetic metabolic disorders, and their symptoms vary widely, with common examples such as

  • Lethargy
  • Weight loss
  • Jaundice and seizures

Syndromes can show in multiple organs, either in parallel or individually.

How can genetic testing help?

Metabolism is the combination of all the chemical reactions that occur in our body to convert the food we eat into the energy needed to power everything we do. Thousands of metabolic reactions occur at the same time to keep our cells healthy and working. Metabolic diseases occur when one or more of these processes are out of balance with the others.

The causes underlying metabolic disorders can be diverse and difficult to pinpoint; there is a growing number of known inherited metabolic protein.

Diagnosis through genetic testing can strongly help uncover the cause of persistent, often debilitating,  undiagnosed symptoms in patients and can provide new insights into the treatment options available for these rare diseases. Diagnosis can also be used to predict the likelihood of passing the inherited condition on to offspring, or the presence of it elsewhere in the family.

Lysosomal storage disorders (LSDs), the largest group of metabolic diseases, consists of 60 different metabolic disorders. Although individually rare, together LSDs occur in at least one in 5,000 births. Many tissues and organs are affected by these diseases. CENTOGENE is involved in genetic subtyping projects of LSDs worldwide, helping patients to get a more rapid and specific personalized treatment.

Neurology

What are your symptoms?

  • Muscle stiffness with involuntary muscle spasms
  • Muscle weakness, foot deformities, depressed or absent reflexes and loss of sensation
  • Problems with normal muscle movement
  • Symptoms of movement problems, like Parkinsonism or abnormal postures
  • Muscle tremors and rigidity
  • Worsening coordination of movement
  • Problems with speech, ability to eat, vision, hearing
  • Cognitive impairment
  • Epilepsy
  • Paralysis of extremities
  • Stroke

More Information

  • Mitochondrial disease - Patient information

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How can genetic testing help?

Inherited neurological conditions cover many different types of diseases and are predominantly disorders of muscle control and movement (including convulsions, poor coordination and muscle weakness), delayed mental development, degeneracy and learning disabilities.

Hereditary spastic paraplegia (HSP) is a group of inherited disorders that cause weakness and spasticity of muscles, which gradually gets worse over time. Ataxia is a group of neurological disorders that affect balance, coordination and speech. Many ataxias are inherited conditions. Symptoms typically develop slowly over many years with tremor, gait and coordination problems. The most common inherited progressive ataxia is Friedreich’s ataxia.

Premature loss of mental and muscular function such as in motor neuron disease, dementia, Alzheimer’s and Parkinson’s disease can be devastating and further compounded by uncertainty of the diagnosis and whether or not it is heritable. Genetic testing to aid a clear diagnosis can make a positive difference to those who are suffering and to their family.

Any degree of significant intellectual impairment can have an underlying genetic component, especially developmental delay, intellectual disability, autism spectrum disorders and cognitive dysfunction. The large number of genes implicated and the broad spectrum of symptoms and severity makes precise and definite diagnoses difficult. Genetic testing can be invaluable in such cases, offering a chance for a clear diagnosis and subsequently treatments and support to help a child achieve its maximum potential.

Oncology

What are your symptoms?

  • Sudden appearance of a palpable nodule (particularly in breasts)
  • Blood in urine or stool
  • Back or abdominal pain
  • Jaundice, fever, extreme tiredness
  • Weight loss and coughing
  • Suspicion of tumor 

More Information

  • Breast cancer testing - Patient information

    You can read all you need to know about breast cancer testing in our information brochure for patients. 

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How can genetic testing help?

Early detection or confirmation of any type of cancer is imperative to protect your health, whether you are affected or are simply at an increased risk of any type of cancer. Early detection of cancer significantly improves disease prediction and offers many opportunities for early treatment or management. Not all cancers are hereditary, but all cancers arise from genetic changes and genetic analysis is therefore a pillar for diagnosis and treatment decision.

Symptoms of various types of cancer, such as sudden appearance of a lump (particularly in breasts), blood in urine and stools, rapidly changing moles, back or stomach pain, and jaundice, fever, extreme tiredness, weight loss or a persistent cough should prompt a search for the causes and also search for a possible cancer.

The risk of cancer can be much better estimated by genetic testing. This allows you to decide on targeted prevention programs, make informed medical and lifestyle decisions, and also may provide helpful information to other family members about their individual risks.

Breast and ovarian cancer is one of the most common cancers in the world affecting ~12.5% of women during their lifetime. About 5–10% of patients with breast and/or ovarian cancer carry a mutation in the BRCA 1/2 genes. For those that carry a mutation in one of these two genes, the lifetime risk of developing breast cancer caused by a BRCA 1/2 mutation is 50–85%, however the risk of ovarian cancer is also significantly increased. A genetic diagnosis can be decisive for prognosis defined surgical and non-surgical treatment options and guide future preventive screening programs.

Eye diseases

What are your symptoms?

  • Blinking, blurred vision
  • Bulging eye
  • Distorted vision
  • Double vision
  • Night-vision problems
  • Pain or discomfort in the eye
  • Spasm in eye, squinting, vision loss

How can genetic testing help?

Eye diseases can be caused by inherited genetic changes including leading causes of blindness among infants (for example Leber congenital amaurosis), children (for example early onset retinitis pigmentosa) and adults (age-dependent macular dystrophy).

However, genetic factors can also cause a wide variety of other symptoms, including blind spots, blurred or distorted vision, impaired color discrimination or difficulty adapting to changing light conditions. With the broad spectrum of symptoms and large number of diseases genetic testing is becoming an increasingly important tool in determining the cause of ophthalmologic conditions. Nowadays we know of more than 400 different genetic diseases. An accurate diagnosis allows the patient and their clinician to define the best therapeutic options and informed decisions with a better understanding on the prognosis of the individual disease.

Infertility

What are your symptoms?

  • Women: irregular or missed periods
  • Women: polycystic ovarian syndrome or endometriosis
  • Women: no pregnancy even though it is intended
  • Men: low (or no) sperm count or low sperm motility

    More Information

    • Infertility testing - Patient information

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    How can genetic testing help?

    For healthy young couples the chance of achieving pregnancy is about 20–25% in each menstrual cycle. However, nearly 15% of couples will not become pregnant after one year of actively pursuing their child wish. There can be a number of indicative symptoms in women, such as irregular or missed periods, polycystic ovarian syndrome or endometriosis, and in men, low (or no) sperm count or low sperm motility. Decreased fertility may be genetic or non-genetic in origin. There are many non-genetic factors, such as age, physical condition, infection or even stress, and in about one-third of cases the cause of infertility cannot be identified.

    However, in 10% of infertility cases genetic factors are involved and their identification may lead to treatment or at least prove the predicitons and save years of expectation and disappointment trying to conceive naturally.

    Malformation

    What are your symptoms?

    • Cleft in the lip or palate
    • Developmental disabilities
    • Intellectual disability
    • Change of the facies
    • Stiff joints
    • Shallow breaths during sleep
    • Delayed development of speech and motor skills

    How can genetic testing help?

    There are a significant number of inherited syndromes that affect a child’s growth and development from birth or even before. This includes malformations of the skeleton, internal organs and other tissues, as well as intellectual, developmental and learning disabilities, which will likely effect to varying degrees a child's life. Early diagnosis paves the way to help normal growth and development and improve the quality of life for the child's lifetime.

    It is therefore key to identify the cause behind any features found at birth or within the first few years of life. For example, a cleft lip and/or palate may be part of a wider syndrome with additional physical and intellectual effects, such as arthrogryposis and Coffin-Siris syndrome.

    In the case of severe diseases genetic diagnosis may help the parents reach informed decisions regarding their further child wish with the possibilities of in vitro fertilization and preimplanatation diagnostics.

    Bone, skin & immune diseases

    What are your symptoms?

    • Weak or soft bones
    • Unclear reason for fractures
    • Scoliosis of the spine
    • Abnormal wound healing
    • Joint hypermobility
    • Joint pain
    • Dry, thickened, scaly or flaky skin
    • Frequent and recurrent fever
    • Recurrent bronchitis inflammation
    • Infection of internal organs
    • Frequent and recurrent pneumonia

    How can genetic testing help?

    Disorders of the bone, skin and immune system are wide-ranging and highly variable, with many different genes involved.

    Genetic variation can affect growth and development of bones, for example osteogenesis imperfecta (brittle bone disease), which is characterized by fragile bones that break easily whilst leaving many other areas of the body unaffected.

    Genetic variation of the connective tissue causes Ehlers-Danlos Syndrome, a relatively common but frequently mis- or undiagnosed disease. There are several different forms of the syndrome, but all share symptoms such as hypermobile joints and weak skin that injures easily with poor wound healing.

    Symptoms of dry, thickened, flaky or scaly skin may be caused by genetic diseases such as ichthyosis. Mild symptoms can easily be mistaken for normal dry skin whilst at the other end of the spectrum the severity can be life-threatening.

    If you are suffering from frequent, long-term or recurrent infections and/or inflammation, such as pneumonia or bronchitis, it could be due to a fundamental deficiency of your immune system with an underlying genetic cause. SCID is the name given to a group of rare inherited disorders involving the white blood cells. Individuals with SCID have poor immune systems and are highly susceptible to infection. Such diseases can manifest with recurrent, severe respiratory infections, skin infections, pneumonia and upper respiratory tract infections. Treatment is available that can reduce the risk of serious infection, and, in some cases, cure the disorder.

    Making or confirming a genetic diagnosis can enable you to find the right general and niche support, and specific treatment information.

    Heart diseases

    What are your symptoms?

    • Heart rhythm disturbances
    • Fluttering in your chest
    • Racing heartbeat (tachycardia) and/or slow heartbeat (bradycardia)
    • Chest pain or discomfort
    • Shortness of breath
    • Dizziness
    • Fainting or near fainting

    How can genetic testing help?

    Inherited heart conditions can affect people of any age and may be suddenly fatal, without any prior warning or knowledge of risk.

    The most common genetically mediated heart conditions are heart rhythm disturbances (for example long QT syndrome and Brugada syndrome) and cardiomyopathies such as hypertrophic, dilated and arrhythmogenic right ventricular cardiomyopathy.

    Cardiomyopathy is a condition that affects the size or shape of your heart (often either a thickening or thinning of the heart muscle). The abnormal heart muscle struggles to pump and deliver blood to the rest of the body’s organs efficiently. Depending on the type, cardiomyopathies can present with myocardial hypertrophy (enlarged heart muscle), fatigue, heart rhythm problems, breathlessness or chest pain. Rare variants in more than 60 genes affect a diverse set of important heart-muscle proteins causing these problems. The disease is inherited within families; while one individual may be affected seriously, other family members may not be affected or have no symptoms but still be at risk.

    Nowadays, a wide variety of genetic testing for inherited heart conditions is available, all of which can provide confirmation of clinical symptoms, where present, to prevent severe complications. Testing can also importantly identify asymptomatic and at-risk family members, so that precautions or interventions can be made to prevent illness or sudden death.

    Ear, nose & throat diseases

    What are your symptoms?

    • Hearing loss
    • Vertigo, irritability
    • Poor sleep and/or loss of appetite
    • Swollen, tender lymph nodes in the neck
    • Fever

    How can genetic testing help?

    The highly delicate and complex structures and workings of the ear, nose and throat are important for many of our most basic functions: for example, the ability to generate sounds, hear, maintain balance, smell and swallow. When diagnosing anything to do with these related mechanisms, it is crucial to distinguish between genetic disorders and those due to environmental influences.

    Hearing loss (deafness) is the most common birth defect and the most prevalent sensory disorder in developed countries. Many genes associated with deafness exist but the most common cause of hearing loss is a mutation in just one gene, which can cause deafness on its own or with other impairments, such as blindness.

    One further example is primary ciliary dyskinesia (PCD), a relatively rare genetic disorder that can affect the lungs, nose, sinuses, ears and fertility. It is characterized by recurring respiratory infections and infertility.

    Kidney diseases

    What are your symptoms?

    • Back or groin pain
    • High blood pressure
    • Kidney failure
    • Blood in urine
    • Poor appetite
    • High amount of protein in urine

    How can genetic testing help?

    People can be affected by a variety of kidney diseases, ranging from relatively common to rare disorders and from relatively harmless to those causing significant illness or even death. Diseases can produce a wide range of different symptoms, with back or groin pain, hypertension and kidney failure. When these conditions arise, genetic testing as part of your diagnosis may provide invaluable new information about the nature, and therefore treatment, of the disease. Genetic testing can also provide you with a greater understanding of the long-term implications for your health.

    Among the most common and severe genetic kidney disorders is polycystic kidney disease (PKD), where fluid filled sacs or cysts develop in the kidneys and interfere with normal organ function. About 12.5 million people worldwide have one form, ADPKD (autosomal-dominantly inherited PKD). More than 50% of those affected will develop kidney failure by the time they are 60 years old. The majority of PKD and many other kidney diseases can be detected by analyzing just a few genes.

    Another example of the large number of diseases we can identify is steroid-resistant nephrotic syndrome, as well as Alport syndrome, which often goes undiagnosed until adulthood; these are among the most difficult kidney diseases to treat but can both be detected with analysis of the associated genes.

    Blood diseases

    What are your symptoms?

    • Immunodeficiency manifested with recurrent, severe respiratory infections
    • Skin infections
    • Pneumonia and/or upper respiratory tract infections
    • Anemia with lower hemoglobin
    • Fatigue and/or dizziness
    • Enlarged spleen and liver
    • Sudden onset of severe headaches, sweating and abdominal pain
    • High blood pressure
    • Easy or excessive bruising, bleeding from gums or nose, prolonged bleeding from cuts

    How can genetic testing help?

    Blood diseases affecting cells that make up the blood, red blood cells, white blood cells and platelets, or blood clotting. Many blood diseases are inherited, and genetic testing can frequently help reach a definitive diagnosis. Inherited deficiencies or abnormalities of the amount, structure or function of the red blood cells can cause anemia. Symptoms can include lower hemoglobin, fatigue and dizziness.

    Congenital afibrinogenemia is a rare, inherited blood disorder in which the blood does not clot normally. Symptoms of blood clotting disorders include frequent bruising, bleeding from gums or nose and prolonged bleeding from cuts. Many of the blood clotting diseases can be treated and diagnosis can avoid health and life threatening bleedings.

    Vascular diseases

    What are your symptoms?

    • Stroke
    • Myocardial infarction
    • Pain in the chest, neck and/or back
    • Coughing up blood
    • Vertigo
    • Chronic nosebleeds

    How can genetic testing help?

    Vascular diseases affect your blood vessels which allow the flow of blood carrying nutrients and oxygen throughout the whole body and the transport of other soluble substances to and from the organs. Signs that there is a disorder of the vascular system can include visual disturbances or vertigo, anemia or more alarming symptoms such as chest, neck or back pain, swelling of the head, neck and arms, chronic nosebleeds or coughing up blood.

    Familial hypercholesterolaemia (FH) is a common inherited condition which causes exceptionally high levels of cholesterol in your blood and subsequently in your tissues. As early treatment can avoid health- and life-threatening alterations in the vascular system, treatment should already be started in childhood when clinical symptoms of the disease are not visible yet.

    Other examples of inherited vascular diseases include familial aneurism syndromes. Aneurisms are localized dilatations or extensions of an artery that may rupture and cause strong internal bleeding. Genetic testing may provide valuable information about the nature of any specific inherited vascular disorder. A clear diagnosis can significantly affect your health and lifestyle choices and minimize the risk of complications later in life for you or any other family members that are subsequently identified.

    Prenatal diagnosis

    Prenatal genetic testing for many inherited disorders can provide a large amount of crucial information on the health and quality of life for your unborn child. Testing may allow you to find the chances of passing on an inherited trait, and if you are already pregnant the knowledge beforehand will allow you to prepare ahead and have the best environment ready for your child from the moment they are born.

    Consult your doctor

    The information obtained from genetic testing can have a profound impact on your life. Prior to any genetic testing, we strongly recommend that you seek genetic counseling to understand more about which of the following options might be beneficial for you and your family members. Genetic counseling is also recommended to help you understand your genetic test results and their implications for other family members.

    At CENTOGENE, we only accept genetic tests ordered by a doctor on your behalf, to ensure that you have access to full support and backup to make informed decisions about your future healthcare.


    Be prepared for a valuable discussion

    • What to ask your doctor

      We would like to support you with the following information to give you the possibility to start a valuable discussion with your doctor about genetic testing and treatment progress screening. Read this before you talk to your doctor.

      Download question sheet