Genetic Tests

  • Coming soon!

  • Genotyping for:

    • HLA-DQ2.2,

    • HLA-DQ2.5 and

    • HLA-DQ8,

    The genetic markers associated with coeliac disease.

    These markers are present in up to 99.7% of people with coeliac disease.

    A negative result makes coeliac disease very unlikely, while a positive result indicates genetic susceptibility but does not by itself confirm a diagnosis.

    HLA haplotypes for coeliac disease should be tested in individuals exhibiting symptoms such as chronic diarrhoea, abdominal pain, bloating, fatigue, as well as those with a family history of the disease.

  • Genotyping by real-time PCR (RT-PCR) for three common variants in the HFE gene associated with hereditary haemochromatosis: C282Y, H63D and S65C.

    The test identifies genetic variants associated with an increased risk of iron overload and hereditary haemochromatosis. A positive result indicates genetic susceptibility but does not necessarily mean that iron overload or haemochromatosis will develop.

    When to order:

    • Patients of Northern European ancestry with unexplained raised serum ferritin and transferrin saturation (TSAT):

      • Males: ferritin >300 µg/L and TSAT >50%

      • Females: ferritin >200 µg/L and TSAT >40%

    Tests for variants in:

    • HFE C282Y

    • HFE H63D

    • HFE S65C

  • Screens for genetic variants in 5 genes associated with familial hypercholesterolaemia (FH), an inherited condition that can cause high cholesterol and increase the risk of cardiovascular disease.

    The test can identify genetic variants that may explain an inherited tendency to high cholesterol and can help support the diagnosis of FH and assessment of family members.

    When to order:

    • Adults with unexplained total cholesterol >7.5 mmol/L or LDL-C >4.9 mmol/L, particularly where there is a first- or second-degree relative with a history of premature myocardial infarction (MI/heart attack).

    Tests for variants in:

    • APOB

    • APOE

    • LDLR

    • LDLRAP1

    • PCSK9

  • T1D Genetic Risk Panel is a rapid genetic test that analyses key SNPs (genetic variants) associated with Type 1 diabetes to calculate a Genetic Risk Score (GRS).

    The GRS can help distinguish Type 1 diabetes from other forms of diabetes and identify individuals with a higher genetic risk of developing Type 1 diabetes.

    What is it?
    A genetic blood test analysing 10 SNPs associated with Type 1 diabetes to calculate an individualised Genetic Risk Score.

    Tests for:

    • rs10509540

    • rs1264813

    • rs12722495

    • rs2187668

    • rs2292239

    • rs2395029

    • rs2476601

    • rs3129889

    • rs689

    • rs7454108

  • This NGS (next-generation sequencing) panel provides a cost-effective way to identify genetic variants associated with inherited cardiac conditions (ICCs). The panel analyses over 100 genes linked to a broad range of inherited cardiac disorders.

    When to order:

    Recommended for patients with suspected or confirmed inherited cardiac conditions, particularly those with:

    • A family history of inherited cardiac disease or sudden cardiac death

    • Unexplained cardiac symptoms or clinical findings

    • A suspected inherited cardiac condition where the underlying genetic cause is unclear

    Genes tested:

    ABCC9, ABCG5, ABCG8, ACTA1, ACTA2, ACTC1, ACTN2, AKAP9, ALMS1, ANK2, ANKRD1, APOA4, APOA5, APOB, APOC2, APOE, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALR3, CASQ2, CAV3, CB2, CBL, CETP, COL3A1, COL5A1, COL5A2, COX15, CREB3L3, CRELD1, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EFEMP2, ELN, EMD, EYA4, FBN1, FBN2, FHL1, FHL2, FKRP, FKTN, FXN, GAA, GATAD1, GCKR, GJAS, GLA, GPD1L, GPIHBP1, HADHA, HCN4, HFE, HRAS, HSPB8, ILK, JAG1, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLF10, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LMF1, LMNA, LPL, LTBP2, MAP2K1, MAP2K2, MIB1, MURC, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYO6, MYOZ2, MYPN, NEXN, NKX2-5, NODAL, NOTCH1, NPPA, NRAS, PCSK9, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PRKAR1A, PTPN11, RAF1, RANGRF, RBM20, RYR1, RYR2, SALL4, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SEPN1, SGCB, SGCD, SGCG, SHOC2, SLC25A4, SLC2A10, SMAD3, SMAD4, SNTA1, SOS1, SREBF2, TAZ, TBX20, TBX3, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, TXNRD2, VCL, ZBTB17, ZHX3, ZIC3

    Turnaround time:
    6 weeks

  • Genetic Breast & Ovarian Cancer Risk Panel

    Screens for genetic variants in 10 genes associated with an increased risk of breast and ovarian cancer.

    The test can identify inherited genetic variants that may help explain a personal or family history of breast or ovarian cancer and can support assessment of inherited cancer risk.

    When to order:

    Consider testing for those:

    • Diagnosed with breast or ovarian cancer

    • With a family history of breast or ovarian cancer

    • With Ashkenazi Jewish ancestry, where there may be an increased likelihood of certain inherited variants

    Genes tested:

    • ATM

    • BRCA1

    • BRCA2

    • CDH1

    • CHEK2

    • PALB2

    • PTEN

    • TP53

    • RAD51C

    • RAD51D

  • Screens and detects genetic variants in 13 genes which may increase risk of bowel cancer/Lynch Syndrome.

    What is it?

    To be requested where the patient has been diagnosed with bowel cancer/ Lynch-related cancer or where there is a family history of bowel cancer or Lynch Syndrome.

  • Screens and detects genetic variants in 14 genes which may increase risk of prostate cancer.

    What is it?

    To be requested where the patient has

    • been diagnosed with prostate cancer,

    • where there is a family history of prostate cancer.

    Gene List:

    ATM

    BRCA1

    BRCA2

    CHEK2

    EPCAM

    HOXB13*

    MLH1

    MSH2

    MSH6

    NBN

    PALB2

    PMS2

    RAD51D

    TP53

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