OTHER HEREDITARY DISEASES

OTHER HEREDITARY DISEASES

Diseases inherited within the family

This group of genetic examinations is aimed at detecting the risk of hereditary and genetically determined diseases. This is both for the purpose of prevention (prediction) aimed at capturing genetic changes associated with the risk of developing a disease during life, for the purpose of diagnosis in persons with specific symptoms or manifestations of a disease, and last but not least, for the purpose of detecting possible transmission before family planning.

Diseases that are inherited and genetically determined, i.e. those that are passed from parents to their offspring and inherited within the family, are caused by errors or variations, otherwise known as mutations, in certain genes. Each person inherits a unique combination of genes from their parents, which contain information about how the different organs and parts of our bodies should look and function. Mutations in genes cause various functional disorders and associated health complications. 

The examination is particularly suitable for those who have a family history of a hereditary disease or who have developed symptoms of a disease and need a diagnosis or to determine the cause of the disease. The results of genetic testing will allow appropriate preventive or curative measures to be taken. Before making an appointment, we recommend that you first receive a genetic consultation, which will help you choose the appropriate test based on an analysis of your family and personal medical history and genetic pedigree.

Cystic fibrosis

Genetic testing that can reveal the predispositions for the onset of cystic fibrosis or identify the cause of your problems. Cystic fibrosis (CF) is a serious multi-organ disease affecting the lungs, digestive tract, pancreas, sweat glands and male reproductive tract. The disease is caused by a mutation in the CFTR gene.

It manifests itself mainly by repeated respiratory infections and impaired absorption of nutrients, which subsequently leads to a general failure to thrive. In men, it causes infertility. A mutation in both copies of the gene is required to cause the disease. This usually occurs when a child inherits a defective copy of the gene from both parents. Single mutation carriers are not affected by the disease. In the Czech Republic, one in 34 people carries the CFTR gene mutation. 

Gene specification: CFTR gene (50 mutations)

You will receive the result within 15 working days.

The examination is covered by public health insurance in indicated cases; please make an appointment for a genetic consultation.

Cystic fibrosis

9 500 Kč

Spinal muscular atrophy

Genetic testing that can reveal predispositions to the onset of spinal muscular atrophy or identify the cause of your problems. Spinal muscular atrophy (SMA) is a genetic neuromuscular disease characterized by progressive muscle degeneration that affects the ability to walk, eat and eventually breathe.

It occurs in approximately 1 in 10,000 people and is the most common genetic cause of death in infants. It is caused by a mutation in the SMN gene, which is carried by one in 47 people in the population. Genetic analysis can detect carriers of the defective gene and prevent the risk of transmission to their offspring. It is carried out on a sample of blood. 

Gene, specification: SMN1, SMN2 (MLPA) genes

You will receive the result within 15 working days.

The examination is covered by public health insurance in indicated cases; please make an appointment for a genetic consultation.

Spinal muscular atrophy

9 800 Kč

Y-chromosome microdeletion

Genetic testing that may reveal predispositions to male infertility-related diseases or identify the cause of your problems. Y-chromosome microdeletion is the examination of specific regions of the Y chromosome that are responsible for the process of spermatogenesis, or the proper function of sperm production.

Male infertility in certain cases is caused by the presence of microdeletions in the so-called AZF areas (azoospermia factor region). Depending on which of the examined AZF factors is missing, men show a reduced number or absence of sperm in the ejaculate. A microdeletion is a missing small piece of genetic information. The analysis is done from a sample of blood taken or a swab from the oral cavity. 

Gene specification: gene regions AZFa, AZFb, AZFc, including the SRY gene

You will receive the result within 10 working days.

The examination is covered by public health insurance in indicated cases; please make an appointment for a genetic consultation.

Y-chromosome microdeletion

4 000 Kč

Polycystic kidney disease

Genetic testing that may reveal predispositions to a specific kidney disease or identify the cause of your problems. Polycystic kidney disease is an inherited disease characterised by the formation of cysts in the kidneys. The number of cysts gradually increases, which damages kidney function and can lead to chronic kidney failure.

The disease is usually accompanied by frequent urinary tract infections, high blood pressure and protein or blood in the urine. The analysis is carried out from a sample of blood taken. 

Gene, specification: PKD1, PKD2, PKHD1 genes

You will receive the result within 6 months

The examination is covered by public health insurance in indicated cases; please make an appointment for a genetic consultation.

Polycystic kidney disease

Congenital non-syndromic hearing loss

Genetic testing that can reveal predispositions to hearing loss. Hearing defect is the most common congenital sensory impairment. Genetically determined congenital hearing loss can be related to other factors, then it is referred to as syndromic.

If the hearing loss occurs in isolation, we speak of nonsyndromic hearing loss. Genetic counselling and testing can be done at any age in case of suspicion, genetic family history or hearing loss. The analysis is carried out from a blood sample. 

Gene, specification: GJB2 gene

You will receive the result within 2 months.

The examination is covered by public health insurance in indicated cases; please make an appointment for a genetic consultation.

Congenital non-syndromic hearing loss

8 500 Kč

Androgenetic alopecia

Genetic testing for chronic hair loss. While in men, hair thinning usually appears already in puberty or early adulthood, in women it tends to occur during menopause. The causes of hair loss can be immunological, allergological or genetic. Androgenetic alopecia is genetically determined and has a characteristic course.

Hair loss occurs mainly on the top of the head, with a sharply defined horseshoe-shaped band of hair at the back and sides of the head. Genetic analysis can confirm or exclude the predispositions for the disease or reveal the cause of excessive hair loss. It is performed from a sample of blood or a swab taken from the oral cavity. The most common treatments include drug therapy, but there are other methods as well. The examination is advisable if you suffer from excessive hair loss, have a family history of the disease or have elevated testosterone levels.

You will receive the result within 10 working days.

The examination is covered by public health insurance in indicated cases; please make an appointment for a genetic consultation.

Androgenetic alopecia

2 300 Kč

Smith-Lemli-Opitz syndrome

Genetic testing for mutations in the DHCR7 gene may reveal the predispositions to a relatively common inherited disease that leads to congenital developmental defects and mental retardation. Smith-Lemli-Opitz syndrome (SLOS) is a matabolic disorder caused by a deficiency of an enzyme that plays a key role in the production and metabolism of cholesterol.

It is most commonly manifested by growth retardation, reduced intellect, cleft palate, congenital limb defects, facial stigma, microcephaly, or developmental defects of the heart, kidneys and genitalia. The examination is particularly appropriate in the case of multiple congenital defects in the family, positive screening in pregnancy, laboratory abnormalities detected, or recurrent miscarriages. The analysis is performed on a sample of blood, chorionic villi or amniotic fluid. 

Gene, specification: DHCR7 gene (selected pathogenic variants)

You will receive the result within 10 working days.

The examination is covered by public health insurance in indicated cases; please make an appointment for a genetic consultation.

Smith-Lemli-Opitz syndrome

Marfan syndrome

Genetic testing that may reveal predispositions to hereditary connective tissue disease or identify the cause of your problems. Marfan syndrome is a relatively rare inherited connective tissue disease. The cause is a mutation in the FBN1 gene. The disease is characterized mainly by a tall, slender figure with extremely long fingers.

It is popularly known as spider finger disease. Some may develop chest deformities, flaccid muscles, joint hypermobility and most sufferers are accompanied by myopia. Patients are at risk of cardiovascular problems in the extreme case of aortic aneurysm or valvular regurgitation. The analysis is carried out on a sample of blood taken.   

Gene, specification: FBN12 gene

You will receive the result within 2 months.

The examination is covered by public health insurance in indicated cases; please make an appointment for a genetic consultation.

Marfan syndrome

Chronic obstructive pulmonary disease, emphysema of the lungs

Genetic testing that can reveal predispositions to lung disease or identify the cause of your problems. Chronic obstructive pulmonary disease (COPD) is a very serious lung disease that affects the proper airflow in the bronchial tubes. Smoking and environmental pollution are the most common causes of COPD, but genetics also plays an important role in the development of COPD.

Emphysema is a permanent abnormal enlargement of the airways characterized by loss of lung tissue. The cause is similar to COPD (chronic obstructive pulmonary disease), or smoking and genetic predisposition. The disease is accompanied by shortness of breath and difficulty exhaling, which can lead to pulmonary hypertension or heart failure. The analysis is carried out from a sample of blood taken or a swab from the oral cavity. 

Gene, specification: SERPINA1 gene, S allele (p.Glu264Val), Z allele (p.Glu342Lys)

You will receive the result within 10 working days.

The examination is covered by public health insurance in indicated cases; please make an appointment for a genetic consultation.

Chronic obstructive pulmonary disease, emphysema of the lungs

Osteoporosis

Genetic testing that can reveal predispositions to osteoporosis or identify the cause of your problems. Osteoporosis is a progressive disease characterised by thinning of bone mass and its increased fragility. As a result, fractures can occur more easily.

The development of the disease is influenced by a number of factors, including lifestyle, diet composition, hormonal influence and, last but not least, genetics. Osteoporosis can also develop secondarily as a result of another primary disease, most commonly thyroid disease, chronic liver disease, kidney disease or diabetes, and sometimes with long-term use of certain medications (e.g. corticosteroids). The analysis is carried out on a sample of blood taken or a swab from the oral cavity.

Gene specification: COL1A1 (c.104-441G>T), VDR (c.1174+283G>A) genes

You will receive the result within 10 working days.

The examination is covered by public health insurance in indicated cases; please make an appointment for a genetic consultation.

Osteoporosis

2 000 Kč

Bechterew's disease

Genetic testing that can reveal predispositions to Bechterew's disease or identify the cause of your problems. Ankylosing spondylitis, or Bechterew's disease, is an autoimmune rheumatic disease in which chronic inflammation occurs, especially in the joints of the spine. The exact cause is still unknown, but a link to the HLA-B27 antigen has been demonstrated.

Antigen carriers are approximately 300 times more likely to develop the disease than individuals without the antigen. Typical manifestations include back pain in the lumbar region, spinal stiffness, and inflammatory involvement of the intervertebral discs. However, breathing difficulties, severe chronic fatigue, psoriatic skin changes, intestinal inflammation or autoimmune heart and aortic disease may also occur. The manifestations of the disease gradually develop and change over the course of life. The analysis is done from a sample of blood taken or a swab from the oral cavity. 

Gene, specification: HLA-B27 allele

You will receive the result within 10 working days.

The examination is covered by public health insurance in indicated cases; please make an appointment for a genetic consultation.

Bechterew's disease

1 100 Kč

HOW DOES THE WHOLE PROCESS WORK?

HOW DOES THE WHOLE PROCESS WORK?

After ordering the test, you will receive an email with detailed information. A DNA sample is most often obtained through an oral swab or blood sample. You can perform the oral swab yourself in the comfort of your own home using a collection kit which will be sent to you by mail together with instructions and other documents. You can have your blood drawn at your local physician's office or at our outpatient clinic. The result of the analysis will be sent to you by e-mail or by post as agreed. In the case of a positive result, we recommend an appointment for a genetic consultation. 

Frequently Asked Questions

The time required for the laboratory examination (sample analysis) and the delivery date of the result vary according to the type and complexity of the examination. Usually it is in the order of weeks, for complex tests up to several months. The delivery date of the result is indicated in the details of each test on our website. In urgent situations, e.g. for a woman with a newly diagnosed breast or ovarian tumour before surgery, the oncopanel cancer test is performed in STATIM mode and the result is available within 3-4 weeks, whereas in normal mode it takes up to 6 months.
Health insurance always covers genetic consultations recommended by the attending physician (usually a general practitioner, paediatrician, oncologist, gynaecologist or other specialist). During the consultation, a clinical geneticist will assess whether the indication criteria for testing for the predisposition genes are met; if so, the entire genetic test, including laboratory analysis of the sample and subsequent consultation with the geneticist/doctor, is covered by health insurance. If the criteria for the genetic testing are not met, the patient can pay for the selected/recommended test as a self-payment.
After making an appointment, you will come to our office where you will first fill out a personal and family history questionnaire, or you can download it from here on our website and fill it out in advance, in the comfort of your own home. Remember to bring it with you afterwards. This is followed by a consultation with a doctor who will compile your three-generation family tree and decide on the indication for laboratory genetic testing. We also recommend that you bring medical reports from recent important examinations.
Recommendation - a referral from the doctor who recommended the genetic consultation. Alternatively, a completed genetic family and personal history questionnaire, which can be downloaded here. However, the questionnaire can also be completed after you arrive at our office. Medical reports from previous examinations related to the requested genetic test. It is not necessary to be fasting for the genetic examination, so you can easily make an appointment in the afternoon.
By phone at 800 390 390 or 234 280 280, by e-mail at info@ghcgenetics.cz.
It has been reported that approximately 5-10% of cancers are caused by inborn changes in certain genes. One of the main goals of predictive genetic testing is the early identification of people at risk. If risk predispositions (gene mutations) are detected, preventive follow-up at specialised centres is recommended, where possible cancers are detected early and the chances of successful treatment are increased. In the case of high-risk mutations, preventive surgery may be recommended to make the risk of cancer in a given organ virtually impossible (for example, removal of the breast glands or removal of the uterus and ovary in BRCA1 or BRCA2 mutation carriers).
If your first-degree relative (parents, siblings, children) develops colon cancer before the age of 45, your risk of developing this cancer is 5 times higher. If you have three first-degree relatives, your risk can be as high as 50%. In families with a history of recurrent bowel cancer or with a history of bowel cancer at a young age, it could be hereditary cancer syndrome (Lynch syndrome). In such cases, genetic consultation is recommended.

Do you have a question or don't know which test to choose?

Call us at 800 390 390 or contact us and we'll be happy to help.