Testing for >1000 conditions using your DNA

Carrier Screening

Unlock your genetic secrets with personalised genetic counselling and carrier screening for ~800 hereditary genes.

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How it works

Chat with our Genetic Counsellor, receive your at-home DNA kit with a quick cheek swab, send it back, and get your results in under 4 weeks.

Why test?

1 in 25 people in the UK is a carrier of a serious genetic condition often without knowing it. Carrier screening helps identify whether you or your partner carry inherited conditions that could affect your children. With early insight, you can make informed decisions and plan for the future with confidence.

>90%

Of the population will carry one or more mutation from the ~800 genes we screen for in our carrier screening test. Making this test actionable and clinically significant.

Genetic Counselling

The Power of Pedigree

A key part of your test is a 30-minute personalised session with one of our genetic counsellors. Genetics can be complex, but you're not alone. We're here to guide you through it. By exploring your family history, we can uncover valuable insights that could make a real difference to your health. We recommend attending this session with your partner.

The Test

Beacon Carrier Screening

The Beacon 787 Carrier Screening Test analyses 787 well-studied genes linked to inherited genetic conditions. Unlike broader tests that include genes with unclear impact, Beacon focuses on clinically relevant results. You get clear answers, backed by science, that support confident decision-making, especially when planning a family.

The Lab

Fulgent Genetics - Trusted Partner

Fulgent Genetics, based in California, is a global leader in genetic testing and analysis. We’ve partnered with them because quality matters, especially when it comes to your health. Their state-of-the-art Illumina sequencing technology delivers over 98% depth at 20x coverage, ensuring your results are both reliable and clinically meaningful.

Research

World-class experts

Medicine is always evolving and so are we. Our expert team stays up to date with the latest research and clinical guidelines, so you’re always getting advice that’s current, trusted, and tailored to you.

Gene List

Learn about our carefully selected list of
genes relating to carrier risk

Gene Category Associated Genes Conditions
Metabolic Disorders AAAS, ABCA12, ABCA3, ABCA4, ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, AGA, AGL, AGPAT2, AGPS, AGXT, AHCY, AKR1D1, ALDH3A2, ALDH4A1, ALDH7A1, ALDOB, ALG1, ALG12, ALG3, ALG6, ALOX12B, ALOXE3, ALPL, AMN, AMT, ANTXR2, ARG1, ARSA, ARSB, ARSE, ASL, ASNS, ASPA, ASS1, ATM, ATP7A, ATP7B, ATP8B1, BCHE, BCKDHA, BCKDHB, BCS1L, BTD, CANT1, CBS, COQ4, COX10, COX15, COX20, COX6B1, CP, CPS1, CPT1A, CPT2, CRADD, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CYBA, CYBB, DBT, DDC, DGUOK, DHCR24, DHCR7, DHDDS, DLAT, DLD, DPYD, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAH, FBXL4, FBP1, FH, FMO3, FOLR1, FOXRED1, FTCD, FUCA1, FXN, G6PC, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GATM, GBA, GBE1, GCDH, GDAP1, GFPT1, GLA, GLB1, GLDC, GNE, GNS, GRHPR, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HAX1, HCFC1, HEXA, HEXB, HGD, HGSNAT, HINT1, HLCS, HMGCL, HMGCS2, HOGA1, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HYAL1, IDH3B, IDS, IDUA, ITPA, IVD, LIPA, LIPN, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MPI, MPV17, MTHFD1, MTHFR, MTR, MTRR, MTTP, MUT, MVK, NAGA, NAGLU, NAGS, NEU1, NGLY1, NPC1, NPC2, OAT, OTC, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PEPD, PET100, PFKM, PGK1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PMM2, PNP, PNPO, PPT1, PRPS1, PSAP, PTS, PYGL, PYGM, QDPR, RTEL1, SACS, SAMD9, SAMHD1, SARS2, SBDS, SCO1, SCO2, SERPINA1, SGSH, SLC12A1, SLC12A3, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A3, SLC27A4, SLC34A3, SLC35A3, SLC37A4, SLC39A4, SLC3A1, SLC45A2, SLC46A1, SLC4A1, SLC5A5, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SMPD1, SPR, SUCLA2, SUMF1, SUOX, SURF1, TAT, TERT, TF, TFR2, TG, TGM1, TH, TK2, TPP1, TTPA, TYMP, TYR, TYRP1, UGT1A1 Inborn errors of metabolism including amino acid disorders (PKU, maple syrup urine disease), organic acidemias, fatty acid oxidation disorders, urea cycle disorders, glycogen storage diseases, lysosomal storage disorders, peroxisomal disorders, porphyria, and other metabolic conditions
Blood & Coagulation Disorders EPB42, F11, F2, F5, F7, F8, F9, GP1BA, GP9, HAMP, HBA1, HBA2, HBB, HFE, HJV, ITGA2B, ITGA6, ITGB3, ITGB4, MPL, NBEAL2, NBN, NCF2, NCF4, RHAG, SEC23B, CDAN1, PGM3 Hemoglobinopathies (sickle cell disease, thalassemias), bleeding disorders (hemophilia, von Willebrand disease), platelet disorders, iron metabolism disorders, and other hematological conditions
Neuromuscular Disorders CAPN3, CASP14, CHAT, CHRNE, CHRNG, CLCN1, COLQ, DMD, DOK7, DYSF, FKBP10, FKRP, FKTN, FHL1, MTM1, MTMR2, NEB, PLEKHG5, POMGNT1, POMT1, POMT2, RAPSN, SELENON, SGCA, SGCB, SGCD, SGCG, SLC5A7, SMN1, TAZ, ESCO2 Muscular dystrophies (Duchenne, Becker, limb-girdle), congenital myopathies, spinal muscular atrophy, myasthenic syndromes, and neuromuscular junction disorders
Sensory Disorders (Hearing & Vision) ABCA4, AIPL1, CDH23, CERKL, CHM, CHST6, CIB2, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CRYL1, EYS, FAM161A, GJB1, GJB2, GJB6, GPR143, GUCY2D, LHCGR, LOXHD1, LRAT, MAK, MYO7A, NDP, NR2E3, OCA2, OPA3, OTOF, PCDH15, PDE6A, PJVK, PRCD, PRDM5, RD3, RDH12, RDH5, RLBP1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, TMPRSS3, USH1C, USH1G, USH2A, WHRN, SLC26A4, CRB1 Hereditary hearing loss (non-syndromic and syndromic), Usher syndrome, retinitis pigmentosa, Leber congenital amaurosis, albinism, color blindness, and other vision/hearing disorders
Neurological & Neurodevelopmental Disorders ADGRG1, ADGRV1, AFF2, AHI1, AIMP1, AIRE, ARX, ATRX, BLM, BRWD3, CC2D1A, CC2D2A, CDCA7, CLP1, CNTNAP2, CTC1, CUL4B, DCX, DLG3, DNMT3B, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EMD, FGD1, FMR1, FTSJ1, HELLS, IGHMBP2, IL1RAPL1, INPP5E, KCTD7, KDM5C, L1CAM, LMNA, LPAR6, LRPPRC, MED17, MEFV, MEGF8, MID1, MLC1, MRE11, NDRG1, NHEJ1, NONO, OPHN1, PAK3, PHF8, PQBP1, PUS1, SH3TC2, SLC12A6, SLC1A4, SMARCAL1, SYN1, SYNE4, THOC2, UPF3B, VPS13A, VPS13B, ZDHHC9, ZNF469, ZNF711 Intellectual disability, autism spectrum disorders, epilepsy, leukodystrophies, spastic paraplegias, ataxias, and other neurological conditions affecting brain development and function
Connective Tissue & Skeletal Disorders ADAMTS2, ALMS1, BMPER, COL11A2, COL17A1, COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, CRTAP, CUL7, DDR2, DLL3, EDA, EFEMP2, EVC, EVC2, GDF5, GRIP1, KIF14, LAMA2, LAMA3, LAMB3, LAMC2, LARS, LTBP4, MESP2, OBSL1, P3H1, PLOD1, PLOD2, PLP1, PRICKLE1, SERPINF1, TNXB, WISP3, WNT1, WNT10A Ehlers-Danlos syndromes, osteogenesis imperfecta, chondrodysplasias, epidermolysis bullosa, Alport syndrome, and other connective tissue and skeletal disorders
Primary Immunodeficiencies AK2, BTK, CD247, CD3D, CD3E, CD3G, CD40LG, CD59, CD8A, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, FOXP3, IKBKB, IL2RA, IL2RG, IL7R, JAK3, LCK, LIG4, MALT1, NDUFA11, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, PRF1, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, SNX10, SP110, STK4, STX11, STXBP2, UNC13D, WAS, ZAP70 Severe combined immunodeficiency (SCID), X-linked agammaglobulinemia, chronic granulomatous disease, Wiskott-Aldrich syndrome, and other primary immunodeficiency disorders
Kidney & Urinary Tract Disorders AGPAT2, AQP2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, AVPR2, CLCN5, CLCNKB, GNPAT, GNPTAB, GNPTG, INVS, KCNJ1, KCNJ11, LMAN1, LMBRD1, NPHP1, NPHP3, NPHS1, NPHS2, OCRL, PKHD1, SLC4A11, VDR, VLDLR Polycystic kidney disease, nephrotic syndrome, renal tubular acidosis, Dent disease, Bartter syndrome, Gitelman syndrome, and other kidney disorders
Endocrine Disorders AMH, AMHR2, AR, CASR, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, DUOX2, DUOXA2, GHR, GHRHR, GNRHR, IYD, LHX3, LIFR, NR0B1, POU1F1, POU3F4, PROP1, SRD5A2, ST3GAL5, STAR, TBX19, TCIRG1, TPO, TRHR, TSHB, TSHR Congenital adrenal hyperplasia, disorders of sex development, congenital hypothyroidism, growth hormone deficiency, and other endocrine disorders
Ciliopathies & Cell Biology Disorders B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BSND, CASQ2, CCDC103, CCDC151, CCDC39, CCDC8, CCDC88C, CEP104, CEP152, CEP290, MKKS, MKS1, RSPH9, SDCCAG8, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, DNAH5, DNAI1, DNAI2, DNAL1, DYNC2H1, HYLS1, SPATA7, RAB23, IFT140, TRAPPC11 Bardet-Biedl syndrome, Joubert syndrome, Meckel syndrome, nephronophthisis, primary ciliary dyskinesia, and other ciliopathy disorders
Cancer Predisposition & DNA Repair ATM, BLM, BRIP1, DDB2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, LYST, MRE11, NBN, POLG, POLH, POLR1C, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, WRN, XPA, XPC, ZBTB24 Fanconi anemia, xeroderma pigmentosum, Bloom syndrome, ataxia-telangiectasia, and other DNA repair disorders that predispose to cancer
Peroxisomal Disorders PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, GNPAT Zellweger spectrum disorders, rhizomelic chondrodysplasia punctata, and other peroxisome biogenesis disorders
Other Genetic Conditions ADK, ANO10, ANO5, AP1S1, AP1S2, AP3B1, AP3D1, APOPT1, ARL13B, ARL6, BLOC1S3, BLOC1S6, BMP1, C19orf12, C8orf37, CAD, CAVIN1, CHMP1A, CLCF1, CLN3, CLN5, CLN6, CLN8, COASY, CPLANE1, CRLF1, DCAF17, DDX11, DOLK, DTNBP1, EXOSC3, FRAS1, FREM2, GORAB, LDLR, LDLRAP1, LPL, LRP2, MANBA, MAN2B1, MCPH1, MFSD8, NIPAL4, NTRK1, OSTM1, PIP5K1C, PIGN, PLA2G6, PNPLA1, POC1A, PPIB, RMRP, ROGDI, SDR9C7, SELENON, SEPSECS, SGP11, SGP21, SGP7, SKIV2L, SLC2A10, SLC2A2, SNAP29, SPG11, SPG21, SPG7, SPINK5, TBCE, TECPR2, TNFSF11, TRDN, TRIM32, TRIM37, TRMU, TRPM6, TSEN2, TSEN34, TSEN54, TSFM, TTC37, TTC7A, TTC8, TULP1, VPS45, VPS53, VRK1, VSX2, AMPD2, ERBB3 Various rare genetic disorders including mitochondrial disorders, neuronal ceroid lipofuscinoses, spastic paraplegias, and other miscellaneous genetic conditions
Comprehensive Carrier Screening - Mobile

Comprehensive Carrier Screening

Gene Categories & Associated Conditions

Associated Genes
186 genes
AAAS, ABCA12, ABCA3, ABCA4, ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, AGA, AGL, AGPAT2, AGPS, AGXT, AHCY, AKR1D1, ALDH3A2, ALDH4A1, ALDH7A1, ALDOB, ALG1, ALG12, ALG3, ALG6, ALOX12B, ALOXE3, ALPL, AMN, AMT, ANTXR2, ARG1, ARSA, ARSB, ARSE, ASL, ASNS, ASPA, ASS1, ATM, ATP7A, ATP7B, ATP8B1, BCHE, BCKDHA, BCKDHB, BCS1L, BTD, CANT1, CBS, COQ4, COX10, COX15, COX20, COX6B1, CP, CPS1, CPT1A, CPT2, CRADD, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CYBA, CYBB, DBT, DDC, DGUOK, DHCR24, DHCR7, DHDDS, DLAT, DLD, DPYD, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAH, FBXL4, FBP1, FH, FMO3, FOLR1, FOXRED1, FTCD, FUCA1, FXN, G6PC, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GATM, GBA, GBE1, GCDH, GDAP1, GFPT1, GLA, GLB1, GLDC, GNE, GNS, GRHPR, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HAX1, HCFC1, HEXA, HEXB, HGD, HGSNAT, HINT1, HLCS, HMGCL, HMGCS2, HOGA1, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HYAL1, IDH3B, IDS, IDUA, ITPA, IVD, LIPA, LIPN, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MPI, MPV17, MTHFD1, MTHFR, MTR, MTRR, MTTP, MUT, MVK, NAGA, NAGLU, NAGS, NEU1, NGLY1, NPC1, NPC2, OAT, OTC, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PEPD, PET100, PFKM, PGK1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PMM2, PNP, PNPO, PPT1, PRPS1, PSAP, PTS, PYGL, PYGM, QDPR, RTEL1, SACS, SAMD9, SAMHD1, SARS2, SBDS, SCO1, SCO2, SERPINA1, SGSH, SLC12A1, SLC12A3, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A3, SLC27A4, SLC34A3, SLC35A3, SLC37A4, SLC39A4, SLC3A1, SLC45A2, SLC46A1, SLC4A1, SLC5A5, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SMPD1, SPR, SUCLA2, SUMF1, SUOX, SURF1, TAT, TERT, TF, TFR2, TG, TGM1, TH, TK2, TPP1, TTPA, TYMP, TYR, TYRP1, UGT1A1
Related Conditions
Inborn errors of metabolism including amino acid disorders (PKU, maple syrup urine disease), organic acidemias, fatty acid oxidation disorders, urea cycle disorders, glycogen storage diseases, lysosomal storage disorders, peroxisomal disorders, porphyria, and other metabolic conditions
Associated Genes
27 genes
EPB42, F11, F2, F5, F7, F8, F9, GP1BA, GP9, HAMP, HBA1, HBA2, HBB, HFE, HJV, ITGA2B, ITGA6, ITGB3, ITGB4, MPL, NBEAL2, NBN, NCF2, NCF4, RHAG, SEC23B, CDAN1, PGM3
Related Conditions
Hemoglobinopathies (sickle cell disease, thalassemias), bleeding disorders (hemophilia, von Willebrand disease), platelet disorders, iron metabolism disorders, and other hematological conditions
Associated Genes
31 genes
CAPN3, CASP14, CHAT, CHRNE, CHRNG, CLCN1, COLQ, DMD, DOK7, DYSF, FKBP10, FKRP, FKTN, FHL1, MTM1, MTMR2, NEB, PLEKHG5, POMGNT1, POMT1, POMT2, RAPSN, SELENON, SGCA, SGCB, SGCD, SGCG, SLC5A7, SMN1, TAZ, ESCO2
Related Conditions
Muscular dystrophies (Duchenne, Becker, limb-girdle), congenital myopathies, spinal muscular atrophy, myasthenic syndromes, and neuromuscular junction disorders
Associated Genes
51 genes
ABCA4, AIPL1, CDH23, CERKL, CHM, CHST6, CIB2, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CRYL1, EYS, FAM161A, GJB1, GJB2, GJB6, GPR143, GUCY2D, LHCGR, LOXHD1, LRAT, MAK, MYO7A, NDP, NR2E3, OCA2, OPA3, OTOF, PCDH15, PDE6A, PJVK, PRCD, PRDM5, RD3, RDH12, RDH5, RLBP1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, TMPRSS3, USH1C, USH1G, USH2A, WHRN, SLC26A4, CRB1
Related Conditions
Hereditary hearing loss (non-syndromic and syndromic), Usher syndrome, retinitis pigmentosa, Leber congenital amaurosis, albinism, color blindness, and other vision/hearing disorders
Associated Genes
68 genes
ADGRG1, ADGRV1, AFF2, AHI1, AIMP1, AIRE, ARX, ATRX, BLM, BRWD3, CC2D1A, CC2D2A, CDCA7, CLP1, CNTNAP2, CTC1, CUL4B, DCX, DLG3, DNMT3B, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EMD, FGD1, FMR1, FTSJ1, HELLS, IGHMBP2, IL1RAPL1, INPP5E, KCTD7, KDM5C, L1CAM, LMNA, LPAR6, LRPPRC, MED17, MEFV, MEGF8, MID1, MLC1, MRE11, NDRG1, NHEJ1, NONO, OPHN1, PAK3, PHF8, PQBP1, PUS1, SH3TC2, SLC12A6, SLC1A4, SMARCAL1, SYN1, SYNE4, THOC2, UPF3B, VPS13A, VPS13B, ZDHHC9, ZNF469, ZNF711
Related Conditions
Intellectual disability, autism spectrum disorders, epilepsy, leukodystrophies, spastic paraplegias, ataxias, and other neurological conditions affecting brain development and function
Associated Genes
38 genes
ADAMTS2, ALMS1, BMPER, COL11A2, COL17A1, COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, CRTAP, CUL7, DDR2, DLL3, EDA, EFEMP2, EVC, EVC2, GDF5, GRIP1, KIF14, LAMA2, LAMA3, LAMB3, LAMC2, LARS, LTBP4, MESP2, OBSL1, P3H1, PLOD1, PLOD2, PLP1, PRICKLE1, SERPINF1, TNXB, WISP3, WNT1, WNT10A
Related Conditions
Ehlers-Danlos syndromes, osteogenesis imperfecta, chondrodysplasias, epidermolysis bullosa, Alport syndrome, and other connective tissue and skeletal disorders
Associated Genes
46 genes
AK2, BTK, CD247, CD3D, CD3E, CD3G, CD40LG, CD59, CD8A, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, FOXP3, IKBKB, IL2RA, IL2RG, IL7R, JAK3, LCK, LIG4, MALT1, NDUFA11, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, PRF1, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, SNX10, SP110, STK4, STX11, STXBP2, UNC13D, WAS, ZAP70
Related Conditions
Severe combined immunodeficiency (SCID), X-linked agammaglobulinemia, chronic granulomatous disease, Wiskott-Aldrich syndrome, and other primary immunodeficiency disorders
Associated Genes
26 genes
AGPAT2, AQP2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, AVPR2, CLCN5, CLCNKB, GNPAT, GNPTAB, GNPTG, INVS, KCNJ1, KCNJ11, LMAN1, LMBRD1, NPHP1, NPHP3, NPHS1, NPHS2, OCRL, PKHD1, SLC4A11, VDR, VLDLR
Related Conditions
Polycystic kidney disease, nephrotic syndrome, renal tubular acidosis, Dent disease, Bartter syndrome, Gitelman syndrome, and other kidney disorders
Associated Genes
35 genes
AMH, AMHR2, AR, CASR, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, DUOX2, DUOXA2, GHR, GHRHR, GNRHR, IYD, LHX3, LIFR, NR0B1, POU1F1, POU3F4, PROP1, SRD5A2, ST3GAL5, STAR, TBX19, TCIRG1, TPO, TRHR, TSHB, TSHR
Related Conditions
Congenital adrenal hyperplasia, disorders of sex development, congenital hypothyroidism, growth hormone deficiency, and other endocrine disorders
Associated Genes
48 genes
B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BSND, CASQ2, CCDC103, CCDC151, CCDC39, CCDC8, CCDC88C, CEP104, CEP152, CEP290, MKKS, MKS1, RSPH9, SDCCAG8, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, DNAH5, DNAI1, DNAI2, DNAL1, DYNC2H1, HYLS1, SPATA7, RAB23, IFT140, TRAPPC11
Related Conditions
Bardet-Biedl syndrome, Joubert syndrome, Meckel syndrome, nephronophthisis, primary ciliary dyskinesia, and other ciliopathy disorders
Associated Genes
33 genes
ATM, BLM, BRIP1, DDB2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, LYST, MRE11, NBN, POLG, POLH, POLR1C, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, WRN, XPA, XPC, ZBTB24
Related Conditions
Fanconi anemia, xeroderma pigmentosum, Bloom syndrome, ataxia-telangiectasia, and other DNA repair disorders that predispose to cancer
Associated Genes
15 genes
PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, GNPAT
Related Conditions
Zellweger spectrum disorders, rhizomelic chondrodysplasia punctata, and other peroxisome biogenesis disorders
Associated Genes
97 genes
ADK, ANO10, ANO5, AP1S1, AP1S2, AP3B1, AP3D1, APOPT1, ARL13B, ARL6, BLOC1S3, BLOC1S6, BMP1, C19orf12, C8orf37, CAD, CAVIN1, CHMP1A, CLCF1, CLN3, CLN5, CLN6, CLN8, COASY, CPLANE1, CRLF1, DCAF17, DDX11, DOLK, DTNBP1, EXOSC3, FRAS1, FREM2, GORAB, LDLR, LDLRAP1, LPL, LRP2, MANBA, MAN2B1, MCPH1, MFSD8, NIPAL4, NTRK1, OSTM1, PIP5K1C, PIGN, PLA2G6, PNPLA1, POC1A, PPIB, RMRP, ROGDI, SDR9C7, SELENON, SEPSECS, SGP11, SGP21, SGP7, SKIV2L, SLC2A10, SLC2A2, SNAP29, SPG11, SPG21, SPG7, SPINK5, TBCE, TECPR2, TNFSF11, TRDN, TRIM32, TRIM37, TRMU, TRPM6, TSEN2, TSEN34, TSEN54, TSFM, TTC37, TTC7A, TTC8, TULP1, VPS45, VPS53, VRK1, VSX2, AMPD2, ERBB3
Related Conditions
Various rare genetic disorders including mitochondrial disorders, neuronal ceroid lipofuscinoses, spastic paraplegias, and other miscellaneous genetic conditions

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What's Next?

What happens if my DNA shows a higher-risk gene?

Type of Cancers

Type of Cancers

We offer expert advice and testing for a range of genes that may increase your risk of developing certain types of cancer.

View Full Gene List

Genetic
Counselling

Our Pricing

Transparent. Personalised. No surprises.

Frequently
Asked Questions

What is carrier screening?

Carrier screening is a type of genetic test that checks whether you carry a gene for a hereditary condition, even if you don’t have any symptoms yourself. It’s most often used by individuals or couples planning a family, to understand the risk of passing on certain inherited conditions to their children.

Everyone carries some changes in their genes, but most don’t cause any health problems. Carrier screening looks for specific conditions that could be passed on if both partners carry the same faulty gene. If both you and your partner are carriers for the same condition, there’s a chance your child could be affected.

What conditions does carrier screening test for?

Carrier screening tests for a range of inherited conditions, including cystic fibrosis, Tay-Sachs disease, sickle cell anaemia, thalassaemia, and spinal muscular atrophy. At Jeen Health, our panel is pan-ethnic and includes 787 clinically relevant genes.

We focus on conditions that are serious, inherited in a recessive or X-linked manner, and have known health impacts. This means we test for conditions that could significantly affect a child’s quality of life, and that may not show up in either parent’s health.

Can I have carrier screening if I’m already pregnant?

Mostly yes, you can have carrier screening during pregnancy - depending on how far along you are. Ideally, carrier screening is done before conception so you have more time and options, but it’s still valuable if you’re already pregnant.

If you’re found to be a carrier during pregnancy, we may recommend testing your partner too. If both partners carry the same gene variant, there’s a 1 in 4 (25%) chance the baby could inherit the condition. Our genetic counsellors will support you through the next steps.

Is carrier screening accurate?

Yes, carrier screening is highly accurate at detecting known gene variants associated with inherited conditions. However, no test is 100% perfect, it’s possible, though rare, to be a carrier for a very rare or unknown variant not covered by the test.

At Jeen Health, we use advanced laboratory techniques and clinically validated panels to provide the most accurate results possible. Your results are interpreted by specialists to ensure they’re meaningful and reliable.

Can I have carrier screening if I’m already pregnant?

Mostly yes, you can have carrier screening during pregnancy - depending on how far along you are. Ideally, carrier screening is done before conception so you have more time and options, but it’s still valuable if you’re already pregnant.

If you’re found to be a carrier during pregnancy, we may recommend testing your partner too. If both partners carry the same gene variant, there’s a 1 in 4 (25%) chance the baby could inherit the condition. Our genetic counsellors will support you through the next steps.

How long does it take to get results?

Results usually take 3-4 weeks from when your sample reaches our lab. We’ll keep you updated and book a follow-up consultation to explain your results once they’re ready.

If further testing is needed for your partner, we’ll move quickly to support you and keep the process smooth. Our aim is to give you answers without delays, so you can plan your next steps with confidence.

What is the cost of carrier screening tests in the UK?

The cost of carrier screening in the UK can vary depending on how many conditions are tested and whether the screening is tailored to your background or family history. At Jeen Health, our tests start from £400, which includes the test kit, lab analysis, and a pre test consultation with one of our genetic counsellors.

Unlike the NHS, which only offers limited screening in specific cases, private testing gives you access to a wider range of conditions and more personalised support. It’s a one-time investment that can provide valuable insight into your family’s genetic health and help you make informed decisions about your future.

Who should consider carrier screening?

Carrier screening is recommended for anyone planning a pregnancy or currently expecting, especially if there's a family history of genetic conditions or if you come from an ethnic background with higher risks of certain inherited diseases. However, even people with no known history can be carriers without knowing it.

It’s particularly helpful for couples who want to make informed decisions about starting a family. Carrier screening can provide peace of mind or allow you to explore options like IVF with genetic testing, egg or sperm donation, or early diagnosis and support if you decide to conceive naturally.

How is the test done?

Carrier screening is done using a simple at-home buccal swab, you just rub a soft swab on the inside of your cheek to collect cells. It’s completely non-invasive and painless, and takes just a few minutes.

Once you return the sample to our lab, we analyse your DNA to look for specific gene variants linked to inherited conditions. Your results are reviewed by our experts, and you’ll receive a report along with a consultation to explain what they mean.

What happens if I’m found to be a carrier?

If you’re a carrier, it means you have one copy of a gene variant linked to a particular condition. You won’t usually have symptoms, but if your partner is also a carrier for the same condition, there’s a risk of passing it on to your child.

Our genetic counsellors will talk you through your results and what they mean. Depending on your partner’s results and your family plans, you may consider further testing, reproductive options, or simply keeping this information in mind for the future.

What happens if I’m found to be a carrier?

If you’re a carrier, it means you have one copy of a gene variant linked to a particular condition. You won’t usually have symptoms, but if your partner is also a carrier for the same condition, there’s a risk of passing it on to your child.

Our genetic counsellors will talk you through your results and what they mean. Depending on your partner’s results and your family plans, you may consider further testing, reproductive options, or simply keeping this information in mind for the future.

Do both partners need to get tested?

It’s ideal for both partners to be tested, but we usually start by testing one. If that person is not a carrier, no further testing is needed. If they are, then their partner should be tested to check for the same condition.

This step-by-step approach helps keep testing straightforward and cost-effective. Our team will guide you based on the results and help you understand your reproductive risks together.

Is carrier screening covered by the NHS?

Carrier screening is available on the NHS in specific situations, such as if you or your partner are from certain ethnic backgrounds or have a known family history of a particular condition. However, comprehensive screening for multiple conditions is not routinely offered.

Jeen Health provides private carrier screening with the support of expert genetic counsellors. This gives you access to broader testing, at your convenience, from the comfort of your home.

What are X-linked conditions?

X-linked conditions are genetic disorders caused by changes in genes found on the X chromosome — one of the two sex chromosomes. Since males only have one X chromosome (and one Y), if they inherit a gene variant on the X chromosome, they’re more likely to be affected by the condition. Females have two X chromosomes, so if one carries a faulty gene, the other can often compensate, which means women are usually carriers without symptoms.

Some common X-linked conditions include Duchenne muscular dystrophy and fragile X syndrome. If you’re a female carrier of an X-linked condition, there’s a 50% chance of passing the gene to each child. Sons who inherit it are more likely to be affected, while daughters may become carriers like you.

Get in touch

Our team of expert Genetic Counsellors is here to help. Whether you're curious about testing, your results, or what’s right for you — we're just a message away.

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