Test Directory

Achondroplasia (FGFR3) - 2 mutations c.1138G>A/C

DNA analysis for FGFR3 mutations to identify the G1138A (known as point mutation G380R) in patients with achondroplasia and the novel missense mutation (Lys650Met) in tyrosine kinase.

Apolipoproteins E (APOE) ε (ε4, ε3 and ε2) Genotyping

The three main alleles of the APOE gene (ε4, ε3 and ε2) carry differential risks for conditions including Alzheimer's disease (AD) and cardiovascular disease and hypercholesterolaemia.

Beta - Thalassaemia /Hbpathies- NGS reflexed to MLPA (Blood)

HBB gene sequencing by NGS provides complete coverage of the gene, including intronic regions and untranslated regions (-100 in the 5′ UTR through +320 in the 3′ UTR), addressing over 450 known mutations. The test is reflexed to Multiplex Ligation‑dependent Probe Amplification for detection of deletions.

Customised Sequencing by Sanger Sequencing

Cystic Fibrosis with CFTR intron 9 Poly T

Duchenne/Becker Muscular Dystrophy Deletion/Duplication Test

Molecular testing for Duchenne and Becker muscular dystrophy involves multiple ligation-dependent probe amplification (MLPA) analysis that can detect up to 98% of all deletions and duplications in the DMD gene in patients and females that carry the mutation. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Factor II (Prothrombin) (G20210A)

Factor V Leiden (R506Q, H1327R)

F5 targeted analysis is a molecular test used to identify the common R506Q/p.Arg534Gln variant in the gene associated with Factor V Leiden thrombophilia. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family.

Fragile X (FMR1)

Molecular testing for FMR1 (CGG)n repeats. Fragile X; FMR1, FRAXA, FXS, Marker X syndrome, Martin-Bell syndrome, X-linked mental retardation

G6PD Sequence Analysis (Sanger/NGS)

This test is used for molecular diagnosis of glucose-6-phophate dehydrogenase deficiency. by full gene sequencing and deletion/duplication analysis. Molecular diagnosis of G6PD by amplicon sequencing via Next Generation Sequencing. All 14 exons and at least +/- 10 bp in the introns are sequenced for pathogenic and likley pathogenic variants of G6PD, mostly produced from missense mutations. Variants of uncertain significance are not reported.

Gilbert Syndrome (UGT1A)

This test is intended to identify the UGT1A1*28 (g.4963_4964[7]), UGT1A1*36 (g.4963_4964[5]), and UGT1A1*37 (g.4963_4964[8]) variants in UGT1A1 from genomic DNA. Information about these variants may be used as an aid to clinicians for confirming a diagnosis of Gilbert syndrome

Haemochromatosis (HFE) - 3 Mutations (C282Y, H63D, S65C)

Predisposing variants

Haemophilia A (Intron 22 & I Inversion reflex to Sequencing)

Haemophilia B (Exons Sequencing)

MTHFR (C665C>T & 1286A>C)

Osteogenesis Imperfecta

Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping

The single base guanine insertion / deletion polymorphism - 675 4G/5G in the SERPINE1 gene (7q22.1) that encodes plasminogen activator inhibitor type-1 (PAI-1) and has been reported to be associated with higher PAI-1 activity failed to be consistently linked to venous or arterial thrombosis.

PROS1 Gene Genotyping

Spinal Muscular Atrophy (SMA) MLPA-Blood

Spinal Muscular Atrophy (SMA) MLPA Blood (in-house)

Spinal Muscular Atrophy (SMA) MLPA-Prenatal

Spinal Muscular Atrophy (SMA) MLPA Foetal/Amnio (in-house)