The GHC Genetics laboratories offer testing for a number of other genetic diseases such as cystic fibrosis, fragility X syndrome, spinal muscular atrophy, Y-chromosome microdeletion and others.
Cystic fibrosis (CF) is one of the most common autosomal recessively inherited diseases in European populations with an incidence of 1 : 3000 to 1 : 6000 live births, the population risk of having a child with CF in the Czech Republic is now approximately 1 : 4500, with a carrier frequency of approximately 1 : 34.
Delivery time: 15 working days
Fragility X syndrome is the second most common cause of mental retardation in men after Down syndrome. Fragile X syndrome (FRAXA, Martin-Bell syndrome) is an X-linked inherited disorder manifested by mental retardation often associated with dysmorphic features (elongated face with prominent chin and large protruding ears); macroorchidism occurs in males.
Delivery time: 15 working days
Spinal muscular atrophy (SMA) is the second most common cause of death in children from autosomal recessive disease (incidence 1 : 10 000 live births, carrier frequency 1 : 47). SMA is a neuromuscular disease characterized by degeneration of the anterior spinal cord horns.
Delivery time: 15 working days
In certain cases, male infertility is caused by the presence of microdeletions in the so-called AZF region (localization Yq11.3). The frequency of their occurrence is estimated at 1 : 10 000 live male births and were found in about 7.3% of infertile men.
Delivery time: 10 working days
Microdeletion syndromes, and thus also microduplication syndromes, are characterized as a group of the most common and clinically most serious so-called submicroscopic chromosome aberrations caused by deletion or duplication of a specific chromosome segment. The incidence is quite high (1 : 4000 to 1 : 30 000) with extensive phenotypic variability.
Delivery time: 15 working days
The name osteoporosis comes from the Latin "os" (bone) and "porosis" (porosity). Osteoporosis is a progressive disease in which bone loss occurs, bone structure weakens and bones break easily. It is a common disease in postmenopausal women, but to a lesser extent also occurs in men.
Delivery time: 10 working days
Autosomal dominant polycystic kidney disease (ADPKD) has an incidence of 1 : 500 to 1 : 1000 and is the most common inherited kidney disease. It is a genetically heterogeneous disease caused by mutations in the PKD1 gene (on chromosome 16) or in the PKD2 gene (on chromosome 4).
Delivery time: 6 months
Hereditary pancreatitis is a form of chronic pancreatitis that can manifest from infancy to late adulthood. Together with cystic fibrosis, it is the most common cause of chronic pancreatitis in childhood.
Delivery time: 6 months
Hearing impairment is the most common sensory defect, with both genetic and non-genetic factors involved. Genetically determined congenital hearing loss may be associated with other symptoms and is then referred to as syndromic hearing loss, or the hearing loss may occur in isolation and is referred to as non-syndromic hearing loss then.
Delivery time: 2 months
Wilson's disease is an autosomal recessive inherited metabolic disease with an incidence of 1 : 30,000. The disease is caused by a deficiency of copper-transporting ATPase, which leads to impaired copper excretion from hepatocytes into the bile ducts and copper incorporation into ceruloplasmin.
Delivery time: 2 months
Crohn's disease is a non-specific inflammatory disease of the gastrointestinal tract, affecting most often the small and large intestine (often the terminal part of the small intestine - the ileum), but virtually any part of the digestive tract can be affected. Inflammation affects the intestine across the entire width of the intestinal wall, is segmental with a tendency to form fistulas and abscesses.
Delivery time: 15 working days
Marfan syndrome is an autosomal dominantly inherited connective tissue disorder resulting from mutations in the fibrillin 1 gene (the FBN1 gene); some patients have a de novo mutation of the FBN1 gene. The incidence of the disease is about 1 : 10 000 people.
Delivery time: 2 months
Smith-Lemli-Opitz syndrome is a relatively common metabolic disease with autosomal recessive inheritance, its incidence is about 1 : 10 000 in the Czech population, the frequency of carriers can be up to 2%. The disease is caused by a mutation in the gene for 7-dehydrocholesterol reductase (the DHCR7 gene) - the product of this gene is essential for the final step of cholesterol synthesis.
Delivery time: 10-15 working days
Insufficiency of the SHOX gene is one of the relatively common causes of genetic growth retardation. The SHOX gene is localized in pseudo-autosomal region 1 (PARI) of both sex chromosomes (Xp22.3, Yp11.3). It is a regulatory gene encoding a transcription factor that plays an important role in long bone growth.
Delivery time: 2 months
The massively parallel sequencing method enables more efficient genetic diagnostics in the field of clinical genetics. This method can identify new genetic changes, i.e. DNA predispositions that contribute to the development of serious diseases.
Delivery time: 6 months