Price of a service

Testing the most common mutations of the CFTR gene detected in the Polish population of cystic fibrosis patients. The cost of the test is 540 PLN.

Test covers more than 1/3 of pathogenic CFTR gene variants found in a study of Polish cystic fibrosis patients (genetic diagnosis in ~95% of 738 patients tested) based on Ziętkiewicz et al. 2014 PMID: 24586523.

Testing for the most common pathogenic variants in genes associated with primary ciliary dyskinesia (PCD) in the Polish population. The cost of the test is 780 PLN.

The test includes selected gene fragments SPAG1, CCDC39, CFAP300, DNAI1, CCDC40, LRRC6, DNAH5. Pathogenic variants present within the tested fragments explain the genetic basis of PCD in more than half of the ~300 Polish families in which mutations in genes associated with PCD pathogenesis have been identified. The test was developed on the basis of a long-term study conducted at the Institute of Human Genetics of the Polish Academy of Sciences in Poznań, involving more than 500 Polish families with suspected PCD [unpublished data] – obtained under the project NCN 2018/31/B/NZ2/03248.

The test includes sequencing of the coding sequences of 62 genes associated with the diagnosis of PCD: DNAH5, DNAI1, DNAI2, DNAH11, DNAH9, ODAD1 (CCDC114), ODAD2 (ARMC4), ODAD3 (CCDC151), ODAD4 (TTC25), CCDC39, CCDC40, DNAAF1 (LRRC50), DNAAF2 (KTU), DNAAF3 (C19orf51), DNAAF4 (DYX1C1), DNAAF5 (HEATR2), DNAAF6 (PIH1D3), DNAAF7 (ZMYND10), DNAAF11 (LRRC6), DNAAF12 (LRRC56), DNAAF13 (SPAG1), DNAAF16 (CFAP298, C21ORF59), DNAAF17 (CFAP300, C11ORF70), DNAAF19 (CCDC103), CLXN (EFCAB1), TTC12, RSPH1, RSPH3, RSPH4A, RSPH9, DNAJB13, NME5 (RSPH23), FOXJ1, TUBB4B, MCIDAS (MCIN), TP73, IFT74, OFD1, RPGR, TALPID3, CCNO, NEK10, GAS2L2, DRC1 (CCDC164), DRC2 (CCDC65), DRC4 (GAS8), HYDIN, SPEF2, STK36, CFAP54 (C12orf55), CFAP74 (C1orf222), CFAP221 (PCDP1), CEP164, DNAL1, DNAAF18 (DAW1, WDR69), CFAP57 (WDR65), CFAP46, DNAH7, DNAH10, DNAH1, DNALI1, CFTR. The cost of the test is 2500 PLN.

The panel includes all genes in which causative mutations have been found in previous studies conducted at IGC PAN in the Polish PCD population (more than 60% of genetically diagnosed patients in a group including more than 500 families with suspected PCD). [Zietkiewicz et al. 2010 PMID: 21143860; Zietkiewicz et al. 2012 PMID: 22448264; Bukowy-Bieryłło et al. 2013 PMID: 22888088; Zietkiewicz et al. 2019 PMID: 31366608; Bukowy-Bieryłło et al. 2019 PMID: 30916986; Zietkiewicz unpublished data – obtained under the project NCN 2018/31/B/NZ2/03248].

Genetic panel for breast cancer, utilizing next-generation sequencing (NGS) technology, focuses on analyzing the coding sequences of the BRCA1 and BRCA2 genes, which are crucial for assessing the hereditary risk associated with breast cancer. The panel enables precise examination of DNA sequences, identifying pathogenic variants that may increase susceptibility to the breast cancer. The cost of the test is 1500 PLN.

References: Brose MS et al. 2002 PMID: 12237282; Finch A et al. 2006 PMID: 16835424; Ferrone CR et al. 2009 PMID: 19064968; Antoniou A et al. 2003 PMID: 12677558; Chen S et al. 2007 PMID: 17416853.

The extended version of the genetic panel involves sequencing and comprehensive analysis of mutations in four genes crucial for assessing genetic predispositions related to the development of breast cancer: BRCA1, BRCA2, PALB2, CHEK2. Utilizing advanced next-generation sequencing (NGS) technology, the genetic panel identifies potentially pathogenic variants in the examined genes that may significantly impact the risk of developing breast cancer. The cost of the test is 1800 PLN.

References: Brose MS et al. 2002 PMID: 12237282; Finch A et al. 2006 PMID: 16835424; Ferrone CR et al. 2009 PMID: 19064968; Antoniou A et al. 2003 PMID: 12677558; Chen S et al. 2007 PMID: 17416853; Antoniou AC et al. 2014 PMID: 25099575; Apostolou P et al. 2017 PMID: 28553140.

The panel includes the analysis of the coding sequences of 137 genes associated with male infertility. Thanks to the use of next-generation sequencing (NGS) technology, it is possible to quickly and accurately detect genetic variants that may be responsible for infertility. The results of the test help specialists select the most appropriate treatment and further diagnostic procedures. Test cost: 1950 PLN.

List of analyzed genes (137): ACTL9, ADGRG2, AIRE, AKR1C4, AMH, AMHR2, ANOS1, AR, ARL6, ARMC2, ARX, ATRX, AURKC, AXL, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BRDT, C14orf39, CATSPER1, CBX2, CCDC141, CEP112, CFAP251, CFAP43, CFAP44, CFAP47, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, CHD7, CYP11A1, CYP17A1, CYP19A1, DHH, DMRT2, DNAH1, DNAH10, DNAH17, DNAH2, DNAH6, DNAH8, DUSP6, DZIP1, FANCM, FEZF1, FGF17, FGF8, FGFR1, FGFR2, FLRT3, FOXL2, FSHB, FSIP2, GALNTL5, GATA4, GNRH1, GNRHR, HESX1, HFE, HS6ST1, HSD17B3, IL17RD, INSL3, KISS1, KISS1R, KLHL10, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, M1AP, MAMLD1, MAP3K1, MKKS, NANOS1, NPAS2, NR0B1, NR5A1, NSMF, PCSK1, PICK1, PLCZ1, PMFBP1, PNLDC1, POR, PPP2R3C, PROK2, PROKR2, PROP1, QRICH2, RSPO1, SEMA3A, SEMA3E, SEPTIN12, SLC26A8, SOHLH1, SOX10, SOX2, SOX3, SOX9, SPATA16, SPEF2, SPRY4, SRA1, SRD5A2, SRY, STAR, SUN5, SYCE1, SYCP2, SYCP3, TAC3, TACR3, TAF4B, TEX11, TEX14, TEX15, TRIM32, TTC21A, TTC29, TTC8, WDR11, WNT4, WT1, WWOX, ZMYND15

The panel includes the analysis of the coding sequences of 105 genes associated with female infertility. The use of next-generation sequencing (NGS) technology enables rapid and precise detection of genetic variants that may affect the function of the female reproductive system. The test results help identify the genetic causes of infertility and support physicians in selecting the appropriate treatment and further diagnostic steps. Test cost: 1800 PLN.

List of analyzed genes (105): AIRE, AKR1C4, ANOS1, AR, ARL6, ARX, ATRX, AXL, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BMP15, CBX2, CCDC141, CHD7, CLPP, CYP11A1, CYP17A1, CYP19A1, DHH, DMRT1, DMRT2, DUSP6, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FEZF1, FGF17, FGF8, FGFR1, FGFR2, FIGLA, FLRT3, FOXL2, FSHB, FSHR, GALT, GNRH1, GNRHR, HESX1, HFE, HFM1, HOXA13, HS6ST1, HSD17B3, IL17RD, KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, LMNA, MAMLD1, MAP3K1, MCM8, MCM9, MKKS, NOBOX, NR0B1, NR3C1, NR5A1, NSMF, NUP107, PADI6, PCSK1, POR, PRLR, PROK2, PROKR2, PROP1, PSMC3IP, RSPO1, SEMA3A, SEMA3E, SOHLH1, SOX10, SOX2, SOX3, SOX9, SPRY4, SRA1, SRD5A2, SRY, STAG3, STAR, SYCE1, TAC3, TACR3, TRIM32, TTC8, WDR11, WNT4, WT1, WWOX, ZP1

Genetic testing for hemochromatosis - an inherited metabolic disorder leading to excessive iron absorption and accumulation, particularly in the liver, heart, and pancreas. If untreated, it may result in serious complications such as liver cirrhosis, diabetes, and cardiomyopathy. The condition is inherited in an autosomal recessive manner, with C282Y and H63D being the most clinically significant variants.

Test scope:
c.845G>A (p.Cys282Tyr; C282Y), c.187C>G (p.His63Asp; H63D), c.193A>T (p.Ser65Cys; S65C), c.502G>T (p.Glu168Ter; E168X), c.848A>C (p.Gln283Pro; Q283P)

Indications:
• elevated ferritin and/or transferrin saturation
• suspected hereditary hemochromatosis
• positive family history

Genetic testing for the most common cause of congenital non-syndromic sensorineural hearing loss, associated with mutations in the GJB2 gene (connexin 26). The condition is inherited in an autosomal recessive manner and typically presents at birth with hearing loss ranging from moderate to profound. The 35delG variant is the most common mutation in European populations.

Test scope:
c.35delG (p.Gly12Valfs)

Indications:
• congenital or early-onset hearing loss
• diagnostic evaluation of non-syndromic deafness
• carrier testing

Genetic testing for VEXAS syndrome - a rare, acquired inflammatory disorder caused by a somatic mutation in the UBA1 gene located on the X chromosome. The condition primarily affects adult males and is characterized by systemic inflammation and multi-organ involvement.

Common symptoms:
• unexplained fever
• skin lesions
• chondritis
• hematological abnormalities and increased risk of thrombosis

Test scope:
c.122T>C (p.Met41Thr)

Indications:
• suspected autoinflammatory disease of unknown origin
• lack of response to standard anti-inflammatory treatment
• coexistence of inflammatory and hematological symptoms