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Blood
Blood tests have a wide range of applications and are among the most commonly performed diagnostic tests. Our offer includes numerous tests that allow for a comprehensive assessment of a patient's health condition.
Analysis of the most common mutations associated with pancreatitis in the PRSS1, SPINK1 and CFTR genes - diagnostics of hereditary pancreatitis (extended panel)
Genetic testing involves the detection of mutations in three genes, PRSS1, SPINK1, and CFTR, that are associated with congenital susceptibility to pancreatitis in the rosier version, and is used to diagnose hereditary pancreatitis.
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PLN 1,250.00
Analysis of the R2 variant (c.4070A>G p.His1299Arg) of the coagulation factor V (F5) gene - thrombophilia diagnostics
Genetic testing involves detecting a gene variant in one of the coagulation factors, R2 of factor V, associated with increased blood clotting, and allows the risk of venous thrombosis to be assessed.
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PLN 286.00
Analysis of the full coding sequence of the GJB2 gene - diagnostics of hereditary deafness (DFNB1)
Genetic testing for hereditary deafness (DFNB1) by analyzing the complete coding sequence of the GJB2 gene allows identification of genetic causes of hearing loss.
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PLN 343.00
Hexokinase
A blood test that measures the level of the enzyme hexokinase, important for glucose metabolism.
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PLN 282.00
Genetic diagnostics of Wilson's disease - analysis of the entire coding region of the ATP7B gene
The molecular test analyzes the entire coding region of the ATP7B gene for mutations, allowing for a complete and detailed genetic diagnosis of Wilson's disease, a rare genetic disorder associated with excessive copper accumulation in the body.
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PLN 6,353.00
Diagnostics of Wilson's disease - analysis of the most common mutation p.His1069Arg of the ATP7B gene and other mutations in exon 8
The molecular test detects the listed most common mutations in the ATP7B gene, as well as other mutations in an area of the gene called exon 8, enabling rapid confirmation of Wilson's disease, a rare genetic disease.
PLN 424.00
Diagnostics of Wilson's disease, stage II - analysis of the ATP7B gene sequence - exons 5, 7, 17, 18 and 20
A molecular test that detects the presence of mutations in specific coding regions of the ATP7B gene, whichóre used in the second stage of diagnosing Wilson's disease, a rare genetic disorder associated with excessive accumulation of copper in the body.
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PLN 1,231.00
Diagnostics of Wilson's disease, stage I - analysis of the ATP7B gene sequence - exons 8, 13, 14 and 15
A molecular test that detects the presence of mutations in specific coding regions of the ATP7B gene, whichóre used in the first stage of diagnosing Wilson's disease, a rare genetic disorder associated with excessive copper accumulation in the body.
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PLN 910.00
Diagnostics of Wilson's disease, stage III - analysis of the ATP7B gene sequence - exons 1-4, 6, 9-12, 16, 19 and 21
A molecular test that detects the presence of mutations in specific coding regions of the ATP7B gene, whichóre used in the third stage of diagnosing Wilson's disease, a rare genetic disorder associated with excessive copper accumulation in the body.
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PLN 3,632.00
Analysis of the NOTCH3 gene exon 4 - the 1st stage of CADASIL syndrome diagnostics
The study involves the analysis of genetic material on a stretch of DNA identified as exon 4 of the NOTCH3 gene, associated with an inherited vascular and cerebrovascular disease known as CADASIL syndrome, as a first step in diagnosing the disease.
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PLN 429.00