Reproduktivni genetički testovi provode se s namjerom da informiraju pojedinca o mogućim ishodima sadašnje ili buduće trudnoće. Testovi mogu uključivati ​​analizu kromosoma i/ili gena kako bi se utvrdilo je li prisutna promjena koja uzrokuje ili će vjerojatno uzrokovati određenu bolest ili poremećaj. Također genetički testovi mogu utvrditi razlog smanjene plodnosti.

Genetičko savjetovanje može pomoći budućim roditeljima da donesu odluke o izboru genetičkog testa kako bi se utvrdile moguće genetske promjene.

Ukoliko u sklopu svog IVF procesa imate potrebu za više navedenih testova možete ostvariti dodatne pogodnosti.

Probir nositelja

Probir nositelja je test koji omogućuje detekciju mutacija koje bi mogle uzrokovati nasljedne poremećaje kod buduće djece. Najčešće su u probir uključeni poremećaji koji imaju visoku frekvenciju nositelja.

Analiza se vrši iz brisa bukalne sluznice

Rezultati testa stižu vašem liječniku u roku od 20 radnih dana.

Ukoliko se probirom utvrdi da je žena nositeljica, nužno je genetsko testiranje partnera kako bi se procijenio rizik za buduće potomstvo.

Probir nositelja testira gene za više od 229 genetičkih poremećaja, uključujući cističnu fibrozu, spinalnu mišićnu atrofiju tipa 1 i sindrom fragilnog X kromosoma.

Cijena:

  • Probir nositelja osnovni panel (21 gen): 505 EUR/3804,90 HRK

  • Probir nositelja prošireni panel (232 gena): 558 EUR/4204,23 HRK

  • Probir nositelja može analizirati samo jedan gen: 425 EUR/4204,23 HRK

Ukoliko istovremeno partneri rade testiranje cijena je umanjena.

Cystic Fibrosis (CFTR), Spinal Muscular Atrophy (SMN1, SMN2), Alpha Thalassemia (HBA1, HBA2), Beta Thalassemia, (HBB),Fragile X Syndrome (FMR1), Bloom Syndrome (BLM), Canavan Disease (ASPA), Duchenne Muscular Dystrophy (DMD), Familial Dysautonomia, (IKBKAP), Fanconi Anemia, Type C (FANCC), , Galactosemia (GALT), Gaucher Disease (GBA), Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM), Mucolipidosis, Type IV (MCOLN1), Niemann-Pick Disease, Types A/B (SMPD1), Non-Syndromic Hearing Loss GJB2-Related and GJB6-Related (GJB2, GJB6), Phenylketonurea (PAH), Sickle-Cell Disease (HBB), Smith-Lemli-Opitz Syndrome (DHCR7), Tay-Sachs Disease (HEXA)

3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency (HMGCL), 3-Methylcrotonyl-CoA Carboxylase Deficiency 1 (MCCC1), 3-Methylcrotonyl-CoA Carboxylase Deficiency 2 (MCCC2), 3-Methylglutaconic Aciduria, Type 3, Costeff Syndrome (OPA3), 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH), 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency (PTS), Abetalipoproteinemia (MTTP), Achondrogenesis, Type 1B (SLC26A2), Achromatopsia (CNGB3-related) (CNGB3), Acute Infantile Liver Failure (TRMU-related) (TRMU), Acyl-CoA Oxidase I Deficiency (ACOX1), Adrenoleukodystrophy (ABCD1), Aicardi-Goutières Syndrome (SAMHD1), Alpha Thalassemia (HBA1, HBA2), Alport Syndrome (COL4A3-related) (COL4A3), Alport Syndrome (COL4A5), Alstrom Syndrome (ALMS1), Andermann Syndrome (SLC12A6), Argininosuccinate Lyase Deficiency (ASL), Aromatase Deficiency (CYP19A1), Arthrogryposis Mental Retardation Seizures (SLC35A3), Asparagine Synthetase Deficiency (ASNS), Aspartylglycosaminuria (AGA), Ataxia with Vitamin E Deficiency (TTPA), Ataxia-Telangiectasia (ATM), Autoimmune Polyglandular Syndrome, Type 1 (AIRE), Autosomal Recessive Polycystic Kidney Disease (PKHD1), Autosomal Recessive Spastic Ataxia of Charlevoix- Saguenay (SACS), Bardet-Biedl Syndrome (BBS1-related) (BBS1), Bardet Biedl syndrome (BBS12-related) (BBS12), Bare Lymphocyte Syndrome (CIITA-related) (CIITA), Bartter Syndrome (BSND-related) (BSND), Batten Disease (CLN3-related) (CLN3), Beta Thalassemia (HBB), Biotinidase Deficiency (BTD), Bloom Syndrome (BLM), Canavan Disease (ASPA), Carnitine Palmitoyltransferase IA Deficiency (CPT1A), Carnitine Palmitoyltransferase II Deficiency (CPT2), Carpenter Syndrome (RAB23), Cartilage-Hair Hypoplasia (RMRP), Cerebrotendinous Xanthomatosis (CYP27A1), Choreacanthocytosis, VPS13A Choroideremia (CHM), Chronic Granulomatous Disease (CYBB), Citrin Deficiency (SLC25A13), Citrullinemia, Type 1 (ASS1), Combined Malonic and Methylmalonic Aciduria (ACSF3), Combined Oxidative Phosphorylation Deficiency 1 (GFM1), Combined Oxidative Phosphorylation Deficiency 3 (TSFM), Combined Pituitary Hormone Deficiency 2, PROP1 Congenital Disorder of Glycosylation, Type 1A (PMM2- related) (PMM2), Congenital Disorder of Glycosylation, Type 1B (MPI), Congenital Disorder of Glycosylation Type 1C (ALG6), Congenital Finnish Nephrosis (NPHS1), Congenital Insensitivity to Pain with Anhidrosis (NTRK1), Congenital Myasthenic Syndrome (CHRNE-related) (CHRNE), Congenital Myasthenic Syndrome (RAPSN-related) (RAPSN), Congenital Neutropenia (HAX1-related) (HAX1), Congenital Neutropenia (VPS45-related) (VPS45), Corneal Dystrophy and Perceptive Deafness (SLC4A11), Corticosterone Methyloxidase Deficiency (CYP11B2), CRB1-related Retinal Dystrophies (CRB1), Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1) (SLC6A8), Crigler Najjar syndrome, Type I (UGT1A1), Cystic Fibrosis CFTR, Cystinosis (CTNS), D-Bifunctional Protein Deficiency (HSD17B4), Deafness (LOXHD1), Duchenne Muscular Dystrophy (DMD), Dystrophic Epidermolysis Bullosa (COL7A1-related) (COL7A1), Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2), Emery-Dreifuss Muscular Dystrophy 1 (EMD), Enhanced S-Cone Syndrome (NR2E3), Ethylmalonic Encephalopathy (ETHE1), Fabry Disease (GLA), Factor IX Deficiency (F9), Factor V Leiden Thrombophilia (F5), Factor XI Deficiency (F11), Familial Dysautonomia (IKBKAP), Familial Hypercholesterolemia (LDLR-related) (LDLR), Familial Mediterranean Fever (MEFV), Familial Nephrogenic Diabetes Insipidus (AQP2- related) (AQP2), Fanconi Anemia, Type G (FANCG), Fanconi Anemia, Type C (FANCC), Fragile X Syndrome (FMR1), Galactokinase Deficiency (Galactosemia, Type II) (GALK1), Galactosemia (GALT), Gaucher Disease (GBA), Glutaric Acidemia, Type 1 (GCDH), Glutaric Acidemia, Type 2A (ETFA), Glycine Encephalopathy (GLDC-related) (GLDC), Glycine Encephalopathy (AMT-related) (AMT), Glycogen Storage Disease, Type 1A (G6PC), Glycogen Storage Disease, Type 1B (SLC37A4), Glycogen Storage Disease, Type 2 (Pompe Disease) (GAA), Glycogen Storage Disease, Type 3 (AGL), Glycogen Storage Disease, Type 4 (GBE1), Glycogen Storage Disease, Type 5 (McArdle Disease) (PYGM), Glycogen Storage Disease, Type 7 (PFKM), GRACILE Syndrome (BCS1L), Hemochromatosis, Type 2A (HFE2), Hemochromatosis, Type 3 (TFR2-related) (TFR2), Hereditary Fructose Intolerance (ALDOB), Hermansky-Pudlak Syndrome (HPS1-related) (HPS1), Hermansky-Pudlak Syndrome (HPS3-related) (HPS3), Holocarboxylase Synthetase Deficiency (HLCS), Homocystinuria (CBS-related) (CBS), Homocystinuria, Type cblE (MTRR), Hydrolethalus Syndrome (HYLS1), Hypohidrotic Ectodermal Dysplasia (EDA), Hypophosphatasia (ALPL-related), (ALPL), Inclusion Body Myopathy Type 2 (GNE), Isovaleric Acidemia (IVD), Joubert Syndrome, Type 2 (TMEM216), Junctional Epidermolysis Bullosa, Herlitz type (LAMC2), Juvenile Retinoschisis (RS1), Krabbe Disease (GALC), Lamellar Ichthyosis, Type 1 (TGM1), Leber Congenital Amaurosis (LCA5-related) (LCA5), Leber Congenital Amaurosis, Type CEP290 (CEP290), Leigh Syndrome, French-Canadian Type (LRPPRC), Leukoencephalopathy with Vanishing White Matter (EIF2B5), Leydig Cell Hypoplasia (Luteinizing Hormone Resistance) (LHCGR), Limb-Girdle Muscular Dystrophy, Type 2A (CAPN3), Limb-Girdle Muscular Dystrophy, Type 2B (DYSF), Limb-Girdle Muscular Dystrophy, Type 2C (SGCG), Limb-Girdle Muscular Dystrophy, Type 2D (SGCA), Limb-Girdle Muscular Dystrophy, Type 2E (SGCB), Lipoamide Dehydrogenase Deficiency (Maple Syrup Urine Disease, Type 3) (DLD), Lipoid Adrenal Hyperplasia (STAR), Lipoprotein Lipase Deficiency (LPL), Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA), Lysinuric Protein Intolerance (SLC7A7), Maple Syrup Urine Disease, Type 1B (BCKDHB), Meckel-Gruber Syndrome, Type 1 (MKS1), Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM), Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1), Metachromatic Leukodystrophy (ARSA-related) (ARSA), Metachromatic Leukodystrophy (PSAP-related) (PSAP), Methylmalonic Aciduria (MMAA-related) (MMAA), Methylmalonic Aciduria (MMAB-related) (MMAB), Methylmalonic Aciduria and Homocystinuria, Type cblC (MMACHC), Methylmalonic Aciduria i Homocystinuria, Type cblD (MMADHC), Methylmalonic Aciduria, Type mut(0) (MMUT), Microphthalmia/Anophthalmia (VSX2-related) (VSX2), Mitochondrial Complex 1 Deficiency (ACAD9-related) (ACAD9), Mitochondrial Complex 1 Deficiency (NDUFAF5- related) (NDUFAF5), Mitochondrial Complex 1 Deficiency (NDUFS6-related) (NDUFS6), Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1) (PUS1), Mucolipidosis II/III (GNPTAB), Mucolipidosis III Gamma (GNPTG), Mucolipidosis, Type IV (MCOLN1), Mucopolysaccharidosis, Type II (Hunter Syndrome) (IDS), Mucopolysaccharidosis, Type IIIB (Sanfilippo B) (NAGLU), Mucopolysaccharidosis, Type IIIC (Sanfilippo C) (HGSNAT), Mucopolysaccharidosis IIID (Sanfilippo D) (GNS), Mucopolysaccharidosis, Type IX (HYAL1), Multiple Sulfatase Deficiency (SUMF1), Myoneurogastrointestinal Encephalopathy (MNGIE) (TYMP), Myotubular Myopathy (MTM1), N-acetylglutamate Synthase Deficiency (NAGS), Navajo Neurohepatopathy (MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome) (MPV17), Neurological Ceroid Lipofuscinosis, TPP1-related (TPP1), Neuronal Ceroid Lipofuscinosis (MFSD8-related) (MFSD8), Neuronal Ceroid Lipofuscinosis (CLN5-related) (CLN5), Neuronal Ceroid Lipofuscinosis (CLN6-related) (CLN6), Neuronal Ceroid Lipofuscinosis (CLN8-related) (CLN8), Neuronal Ceroid Lipofuscinosis (PPT1-related) (PPT1), Niemann-Pick Disease, Types A/B (SMPD1), Niemann-Pick Disease, Type C1/D (NPC1), Niemann-Pick Disease, Type C2 (NPC2), Nijmegen Breakage Syndrome (NBN), Non-Syndromic Hearing Loss (GJB2-related, GJB6-related) (GJB2, GJB6), Odonto-Onycho-Dermal Dysplasia/Schopf-Schulz- Passarge Syndrome (WNT10A), Omenn Syndrome, RAG2-related (RAG2), Ornithine Aminotransferase Deficiency (OAT), Ornithine Transcarbamylase Deficiency (OTC), Ornithine Translocase Deficiency (HyperornithinemiaHyperammonemia-Homocitrullinuria) (SLC25A15), Pendred Syndrome (SLC26A4), Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related) (PEX1), Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related) (PEX2), Phenylketonurea (PAH), Pituitary Hormone Deficiency, Combined 3 (LHX3), Pontocerebellar Hypoplasia, RARS2-related (RARS2), Pontocerebellar Hypoplasia, Type 1A (VRK1), Pontocerebellar Hypoplasia, Type 2D (SEPSECS), Pontocerebellar Hypoplasia, Type 2E (VPS53), Primary Ciliary Dyskinesia (DNAH5-related) (DNAH5), Primary Ciliary Dyskinesia, DNAI1-related (DNAI1), Primary Ciliary Dyskinesia, DNAI2-related (DNAI2), Primary Hyperoxaluria, Type 1 (AGXT), Primary Hyperoxaluria, Type 2 (GRHPR), Primary Hyperoxaluria, Type 3 (HOGA1), Pycnodysostosis (CTSK), Pyruvate Dehydrogenase Deficiency (PDHB-related) (PDHB), Pyruvate Dehydrogenase Deficiency (PDHA1), Renal Tubular Acidosis and Deafness (ATP6V1B1- related) (ATP6V1B), Retinal Dystrophy (RLBP1-related) (Bothnia Retinal Dystrophy) (RLBP1), Retinitis Pigmentosa 59 (DHDDS-related) (DHDDS), Retinitis Pigmentosa 25 (EYS-related) (EYS), Retinitis Pigmentosa 26 (CERKL), Retinitis Pigmentosa 28 (FAM161A), Retinitis Pigmentosa (RPGR), Rhizomelic Chondrodysplasia Punctata, Type 1 (PEX7), Rhizomelic Chondrodysplasia Punctata, Type 3 (AGPS), Roberts Syndrome (ESCO2), Salla Disease (SLC17A5), Sandhoff Disease (HEXB), Schimke Immunoosseous Dysplasia (SMARCAL1), Segawa Syndrome, (TH-related) (TH), Severe Combined Immunodeficiency, Type Athabaskan (DCLRE1C), Severe Combined Immunodeficiency (IL2RG), Sickle-Cell Disease (HBB), Sjögren-Larsson Syndrome (ALDH3A2), Smith-Lemli-Opitz Syndrome (DHCR7), Spinal Muscular Atrophy (SMN1, SMN2), Steroid-Resistant Nephrotic Syndrome (NPHS2), Stuve-Wiedemann Syndrome (LIFR), Tay-Sachs Disease (HEXA), Tyrosinemia, Type 1 (FAH), Usher Syndrome, Type 1C (USH1C), Usher Syndrome, Type 1F (PCDH15), Usher Syndrome, Type 2A (USH2A), Usher Syndrome, Type 3 (CLRN1), Wilson Disease (ATP7B), Wolman Disease (LIPA), Zellweger Spectrum Disorders (PEX6-related) (PEX6), Zellweger Spectrum Disorders (PEX10-related) (PEX10)

Cystic Fibrosis (CFTR), Spinal Muscular Atrophy (SMN1, SMN2), Alpha Thalassemia (HBA1, HBA2), Beta Thalassemia, (HBB), Fragile X Syndrome (FMR1) i Duchenne Muscular Dystrophy (DMD)

Kariotip

Kariotip analizira strukturu i broj kromosoma u jezgri stanice kod pojedinca. Normalan ženski kariotip sadrži 46,XX kromosoma, dok normalan muški kariotip sadrži 46,XY kromosoma, odnosno 22 para autosoma i jedan par spolnih kromosoma.

Test se preporučuje napraviti u slučaju uzastopnih spontanih pobačaja, problema sa začećem, te muške i ženske neplodnosti.

Analiza se vrši iz uzorka periferne krvi.

Rezultati testa stižu vašem liječniku u roku od 25 radnih dana.

Cijena:

  • Kariotip za jednu osobu: 266 EUR/2004,20 HRK

  • Kariotip za par: 385 EUR/2900,80 HRK

Mikrodelecije Y kromosoma

Prisutnost mikrodelecije na Y kromosomu može uzrokovati azoospermiju, oligospermiju ili abnormalnu morfologiju/pokretljivost spermija kod muškaraca. Na Y kromosomu postoje AZF regije (AZFa, AZFb, AZFc) koje igraju važnu ulogu  u spermatogenezi. Gubitak bilo kojeg dijela navedenih regija može dovesti do poremećaja spermatogeneze i neplodnosti.  U većina slučajeva mikrodelecije Y kromosoma su nove mutacije koje se međutim, mogu prenijeti na muško potomstvo.

Test se preporučuje muškarcima s azoospermijom ili oligospermijom i muškarcima koji se bore s neplodnošću. Prisutna delecija može odrediti uzrok neplodnosti kod nekih muškaraca i imati prognostičku vrijednost u određivanju intervencije.

Analiza se vrši iz uzorka periferne krvi.

Rezultati testa stižu vašem liječniku u roku od 15 radnih dana.

Cijena:

  • Analiza AZFa, AZFb i AZFc regije na Y kromosomu: 160 EUR/1205,50 HRK

Trombofilija

Trombofilija je sklonost stvaranju krvnih ugrušaka. Mutacije u genima za faktore trombofilije koji se analiziraju ovim testom ukazuju na povećanu vjerojatnost razvoja trombofilije. Ovaj rizik posebno je važno znati u trudnoći budući da tada rizik za pojavu krvnog ugruška značajno raste.

Analiza se vrši iz uzorka periferne krvi.

Rezultat testa dostupan je u roku 15 radnih dana.

Panel 4 mutacije

  • F2 Prothrombin G20210A, F5 Leiden G1691A/R506Q, MTHFR A1298C, MTHFR C677T)
  • Cijena: 146 EUR/1100,00 HRK

Panel 5 mutacija

  • Faktor V Leiden (G1691A/ R506Q), Faktor II – Protrombin (G20210A), MTHFR (A1298C), MTHFR (C677T), PAI-1 (Del/Ins 4G/5G)
  • Cijena: 166 EUR/1250,70 HRK

Genetički test za neplodnost

Genetički test za neplodnost analizira niz gena koji otkrivaju brojne genetske varijante povezane s neplodnošću te aneuploidije spolnih kromosoma. Uz test moguće je dodati test za trombofiliju i neonatalnu aloimunu trombocitopeniju (NAIT) koji provjerava specifične genetske varijante povezane s ponovnim gubitkom trudnoće ili genetske varijante koje povećavaju rizik od NAIT-a.

Test je namijenjen parovima koji imaju problema pri začeću, ženama s neredovitim ili izostalim menstruacijama, muškarcima s niskim brojem spermija, nepravilnim oblikom ili kretanjem spermija, osobama za koje se sumnja da imaju poremećaj spolnog razvoja, osobama koje će se podvrgnuti procesu potpomognute oplodnje i osobe s obiteljskom poviješću neplodnosti.

Analiza se vrši iz uzorka bukalne sluznice.

Rezultati su dostupni za 2 do 4 tjedana.

Genetički test za žensku neplodnost analizira 55 gena i aneuploidije spolnih kromosoma. Testirani poremećaji uključuju primarnu insuficijenciju jajnika, sindrom hiperstimulacije jajnika i hipogonadotropni hipogonadizam kao što su kao Kallmannov sindrom.

Cijena: 532 EUR/4008,32 HRK

Genetički test za mušku neplodnost analizira 40 gena, aneuploidije spolnih kromosoma i mikrodelecije Y kromosoma. Testirani poremećaji uključuju hipogonadotropni hipogonadizam kao što je Kallmannov sindrom.

Cijena: 532 EUR/4008,32 HRK

Genetički test za trombofiliju i NAIT analizira 22 genetske promjene u 17 gena.

Cijena: 200 EUR/1506,90 HRK

Ukoliko istovremeno partneri rade testiranje cijena je umanjena.

AIRE EIF2B3 GALT IRS2 PROKR2 ANOS1 FEZF1 GDF9 KISS1 PSMC3IP BMP15 FGF17 GNAS KISS1R SEMA3A CAPN10 FGF8 GNRH1 LHB SPRY4 CHD7 FGFR1 GNRHR LHCGR STAG3 CYP11A1 FIGLA HESX1 NOBOX TAC3 CYP17A1 FLRT3 HS6ST1 NR5A1 TACR3 CYP19A1 FMR1 IL17RD NSMF THADA DENND1A FOXL2 INS POF1B WDR11 DUSP6 FSHB INSR POLG WT1 EIF2B2 FSHR IRS1 PROK2 ZP1
ANOS1 DUSP6 FSHR LHB SPRY4 AR FEZF1 GNRH1 LHCGR SRD5A1 AURKC FGF17 GNRHR NR5A1 SRY CATSPER1 FGF8 HESX1 NSMF TAC3 CFTR FGFR1 HS6ST1 PRM1 TACR3 CHD7 FLRT3 IL17RD PROK2 USP26 DAZL FMR1 KISS1 PROKR2 USP9Y DDX25 FSHB KISS1R SEMA3A WDR11
 ACE APOE GP1BA ITGB3 SERPINE1 AGT F13A1 GSTP1 MTHFR AGTR1 F2 ITGA2 MTR APOB F5 ITGA2B MTRR

Genetičko savjetovanje

Genetičko savjetovanje iz područja reproduktivne medicine daje prim. dr. sc. Vida Čulić.

Vida Čulić je pedijatrica, subspecijalistica medicinske genetike i profesorica koja je dugi niz godina vodila Odsjek za medicinsku genetiku i Laboratorij za humanu genetiku. Završila je Medicinski fakultet Sveučilišta u Zagrebu, a specijalizaciju iz pedijatrije na Klinici za dječje bolesti, KBC Zagreb. Poslijediplomski studij Medicinske genetike je završila na KBC Zagreb, Klinika za dječje bolesti, Zavod za medicinsku genetiku. Educirala se dodatno u Ospedale San Gerardo, Universita di Milano Clinica Pediatrica i Centro di ricerca “M. Tettamanti” Leucemie ed emopatie infantili. Organizirala je veliki broj simpozija i tečajeva iz područja medicinske genetike i pedijatrije. Urednica je dva sveučilišna udžbenika, 11 poglavlja u 5 knjiga te je objavila veliki broj radova citiranih u CC i SCI časopisima.

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KONTAKT

Najčešće postavljena pitanja:

Sam postupak testiranja nema medicinskih rizika. Uzima se uzorak sline ili krvi. Prije testiranja važno je liječničko/genetsko savjetovanje.

Jasan izvještaj o pronađenim genetskim promjenama.

Rezultati testa na trombofiliju stižu liječniku u roku od od 10 radnih dana.

Rezultati probira nositelja stižu liječniku u roku od 10 do 15 radnih dana.

Rezultati kariotipa stižu liječniku u roku od 20 radnih dana.

Rezultati analize mikrodelecija Y kromosoma stižu liječniku u roku od 10 radnih dana.

Rezultati analize genetičkog testa za neplodnost stižu liječniku unutar 2 do 4 tjedana