Here is an alphabetical list of the tests we conduct.             

Available Tests Specimen Type Turnaround Time
ALK Fish Probe Blood 7 days
Congenital Thrombotic Thrombocytopenic Purpura (ADAMTS13 deficiency) Blood 8 weeks
Factor V Deficiency Blood 8 weeks
Factor XIII Deficiency Blood 8 weeks
Fibrinogen disorders Blood 8 weeks
Glanzmann Thrombasthenia Blood 8 weeks
Glycogen Storage Disease Next Generation Sequencing Panel: Liver Blood 12 weeks
Haemophilia A/Factor VIII deficiency Blood 8 weeks
Haemophilia A & B/Factor IX deficiency Blood 8 weeks
Multiple Endocrine Neoplasia Type 1 (MEN1) Blood 8 weeks
Hereditary Spastic Paraparesis (HSP) Blood 16 weeks
Metabolic Myopathies/Rhabdomyolysis Blood 12-16 weeks
MYH9 Macrothrombocytopenia Blood 8 weeks
Osteogenesis Imperfecta, Autosomal Dominant Blood 8 weeks
Polycystic Kidney Disease (autosomal dominant) PKD1 & PKD 2 genes Blood 2-8 weeks
von Willebrand Disease type 1-3r Blood 8 weeks
Wilson Disease Blood 8 weeks
     
Currently unavailable online.
Acute Lymphoblastic Leukaemia (ALL)/BCR-ABL Currently unavailable online, please contact us
Acute Myeloid Leukaemia (AML) (+/-FISH) Currently unavailable online, please contact us
Acute Myeloid Leukaemia /AML/AML-M2/AML-17 Currently unavailable online, pleasecontact us
Acute Myeloid Leukaemia /AMLFlt3/NPM1 mutation screen Currently unavailable online, please contact us
Acute Promyelocytic Leukaemia(APL)/AML M3/AML-17 Currently unavailable online, please contact us
Adrenoleukodystrophy (ALD) (X-linked) Currently unavailable online, please contact us
Alpha Thalassaemia Currently unavailable online, please contact us
Alveolar Rhabdomyosarcoma Currently unavailable online, please contact us
Amylotrophic Lateral Sclerosis and Dementia Next Generation Sequencing Panel* Currently unavailable online, please contact us
Anaplastic large cell lymphoma, ALK positive Currently unavailable online, please contact us
Androgen Insensitivity Syndrome (Testicular Feminisation) Currently unavailable online, please contact us
Antithrombin Deficiency Currently unavailable online, please contact us
Aneuploidy FISH test Currently unavailable online, please contact us
Apolipoprotein E (APOE) Currently unavailable online, please contact us
Array CGH (see CGH / microarray) Currently unavailable online, please contact us
Ataxia Telangiectasia Currently unavailable online, please contact us
Bernard-Soulier syndrome (GP1BA, GB1BB, GP9) Currently unavailable online, please contact us
Beta Thalassaemia Currently unavailable online, please contact us
Bladder Cancer Currently unavailable online, please contact us
Blooms Syndrome Currently unavailable online, please contact us
BRAF (V-raf murine sarcoma viral oncogenes homolog B1) p.Val600Glu mutation Currently unavailable online, please contact us
BRCA1 & BRCA2 Currently unavailable online, please contact us
Breast Cancer (Her2) FISH Currently unavailable online, please contact us
Breast & Ovarian Cancer Next Generation Sequencing Panel* Currently unavailable online, please contact us
Bruck Syndrome (PLOD2) Currently unavailable online, please contact us
Burkitt Lymphoma Currently unavailable online, please contact us
Carnitine Acylcarnitine Translocase (CACT) Deficiency Currently unavailable online, please contact us
Carnitine Palmitoyl Transferase Type2 (CPT2) Deficency Currently unavailable online, please contact us
Cartilage-associated protein (CRTAP)-autosomal recessive OI. Currently unavailable online, pleasecontact us
CBCL/CTCL / Skin lymphoma/ mycosis fungoides (IgH or T cell gene rearrangements) Currently unavailable online, please contact us
Cerebral AD Arteriopathy with Subcortical Infarcts & Leukoencephalopathy (CADASIL) Currently unavailable online, please contact us
CGH/microarray Currently unavailable online, please contact us
Chimerism/pre or post bone marrow/stem cell transplant (BMT/SCT)/donor for BMT/SCT/matched unrelated donor (MUD) – Sex matched (Powerplex) Currently unavailable online, please contact us
Chimerism/pre or post bone marrow/stem cell transplant (BMT/SCT)/donor for BMT/SCT/matched unrelated donor (MUD) – Sex mis-matched (FISH) Currently unavailable online, please contact us
Chromosome – Adult (with or without FISH) Currently unavailable online, pleasecontact us
Chromosome – Child (with or without FISH) Currently unavailable online, please contact us
Chromosome – Neonate Currently unavailable online, please contact us
Chromosome (with or without FISH) PRENATAL Currently unavailable online, pleasecontact us
Chromosome (with or without FISH) PRENATAL Currently unavailable online, pleasecontact us
Chromosome (with or without FISH) PRENATAL Currently unavailable online, please contact us
Chromosome (with or without FISH) POSTNATAL Currently unavailable online, pleasecontact us
Chromosome (with or without FISH) FETAL LOSS Currently unavailable online, please contact us
Chromosome (with or without FISH) Currently unavailable online, please contact us
Chromosome (with or without FISH) Currently unavailable online, please contact us
Chronic Lymphoproliferative Leukaemia (CLL) –FISH Currently unavailable online, please contact us
Chronic Myeloid Disease (CML) (+/- FISH) Currently unavailable online, please contact us
Chronic Myeloid Leukaemia (CML)/BCR-ABL Currently unavailable online, please contact us
Colorectal Cancer NGS Extended Sequencing Panel* Currently unavailable online, please contact us
Connective Tissue Disorders Next Generation Sequencing Panel (see website for list of sub-panels and gene content) Currently unavailable online, please contact us
Congenital Bilateral Absence of Vas Deferens (CBAVD) Currently unavailable online, please contact us
Crigler-Najjar Syndrome types I and II Currently unavailable online, please contact us
Cystic Fibrosis Currently unavailable online, please contact us
Dentatorubral-pallidoluysian atrophy (DRPLA) Currently unavailable online, please contact us
Dermatofibrosarcoma protuberans Currently unavailable online, please contact us
Diamond Blackfan Anaemia (RPS19) Currently unavailable online, please contact us
Diamond Blackfan Anaemia (dosage testing byMLPA) Currently unavailable online, please contact us
Dopa-responsive dystonia (Segawa syndrome), dominant Currently unavailable online, please contact us
Down Syndrome – PRENATAL (with or without FISH) Currently unavailable online, please contact us
Down Syndrome – POSTNATAL NEONATE (with or without FISH**) Currently unavailable online, please contact us
Dystonia and Parkinsonism Next Generation Sequencing Panel Currently unavailable online, please contact us
Dystonia 1 (DYT1) or Idiopathic Torsion Dystonia, dominant Currently unavailable online, please contact us
Dystrophia myotonica (DM) Currently unavailable online, please contact us
EGFR (exons 18-21) Currently unavailable online, please contact us
Ehlers Danlos Next Generation Sequencing Panels (Vascular, Classic and Kyphoscoliotic) Currently unavailable online, please contact us
Ehlers-Danlos Syndrome Classical (COL5A1 and COL5A2) Currently unavailable online, please contact us
Ehlers-Danlos Syndrome Classical (COL5A1) - Null allele Currently unavailable online, please contact us
Ehlers-Danlos Syndrome - Hypermobile (TNXB) Currently unavailable online, please contact us
Ehlers-Danlos Syndrome - KMH (FKBP14) Currently unavailable online, please contact us
Ehlers-Danlos Syndrome - Kyphoscoliotic (PLOD1) Currently unavailable online, please contact us
Ehlers-Danlos Syndrome - Musculocontractural (CHST14) Currently unavailable online, please contact us
Ehlers-Danlos Syndrome - Vascular (COL3A1) Currently unavailable online, please contact us
Ehlers-Danlos Syndrome - arthrochalasic (COL1A1 and COL1A2) Currently unavailable online, please contact us
Episodic Ataxia type 1 Currently unavailable online, please contact us
Episodic Ataxia type 2 Currently unavailable online, please contact us
Ewings Sarcoma and rearrangements of EWSR1 associated with clear cell sarcoma, extraskeletal myxoid chondrosarcoma and desmoplastic small round cell tumour Currently unavailable online, please contact us
Factor XI Deficiency (Haemophilia C) Currently unavailable online, please contact us
Familial Adenomatous Polyposis Coli (FAP) Currently unavailable online, please contact us
Familial Adenomatous Polyposis Coli (FAP) & MUTYH Sequencing Panel* Currently unavailable online, please contact us
Familial Hemiplegic migraine type 1 Currently unavailable online, pleasecontact us
Familial Hypercholesterolaemia (LDLR sequencing and MLPA; ApoB p.(Arg3527Gln) mutation analysis; PCSK9 p.(Asp374Tyr) mutation analysis). Currently unavailable online, please contact us
Familial Motor Neurone Disease / amyotrophic lateral sclerosis with or without frontotemporal dementia (ALS/FTD) C9orf72 gene Currently unavailable online, please contact us
Familial Motor Neurone Disease / amyotrophic lateral sclerosis (ALS) SOD1 gene Currently unavailable online, please contact us
Familial Motor Neurone Disease / amyotrophic lateral sclerosis (ALS) TARDBP gene Currently unavailable online, please contact us
Familial Porencephaly (COL4A1& COL4A2) by Next Generation Sequencing Currently unavailable online, please contact us
Familial Thoracic Aortic Aneurysms Next Generation Sequencing Panel Currently unavailable online, please contact us
Fanconi Anaemia (Chromosome Breakage Studies) Currently unavailable online, please contact us
Fanconi Anaemia by Next Generation Sequencing (16 genes) Currently unavailable online, please contact us
Fanconi Anaemia by Next Generation Sequencing (individual genes) Currently unavailable online, please contact us
Follicular lymphoma/DLBCL Currently unavailable online, please contact us
Fragile X Syndrome Currently unavailable online, please contact us
Friedreich Ataxia Currently unavailable online, please contact us
Fructose-1,6-bisphosphatase deficiency Currently unavailable online, please contact us
Fumarate Hydratase Deficiency Currently unavailable online, please contact us
Gilbert Syndrome Currently unavailable online, please contact us
Glioma Currently unavailable online, please contact us
Glucose Transporter 1 (GLUT1) deficiency syndrome (SLC2A1 sequencing and MLPA) Currently unavailable online, please contact us
Glutaric Acidaemia Type 1(GA1) Currently unavailable online, please contact us
Glycogen Storage Disease Next Generation Sequencing Panels: Liver, Muscle, Heart, Generalised Panel* Currently unavailable online, please contact us
Glycogen Storage Disease Type 0 (GYS2 – liver, GYS1 - muscle) Currently unavailable online, please contact us
Glycogen Storage Disease Type 1a (von Gierke disease) (G6PC) Currently unavailable online, please contact us
Glycogen Storage Disease Type 1 non-a (SLC37A4) Currently unavailable online, please contact us
Glycogen Storage Disease Type II (Pompe disease) (GAA) Currently unavailable online, please contact us
Glycogen Storage Disease Type III (AGL) Currently unavailable online, please contact us
Glycogen Storage Disease Type IV (Andersen disease) (GBE1) Currently unavailable online, please contact us
Glycogen Storage Disease Type V (McArdle disease) (PYGM) Currently unavailable online, please contact us
Glycogen Storage Disease Type VI (Hers Disease)(PYGL) Currently unavailable online, please contact us
Glycogen Storage Disease Type VII (Tarui disease)(PFKM) Currently unavailable online, please contact us
Glycogen Storage Disease Type IX (X-linked) (PHKA2 – liver, PHKA1 - muscle) Currently unavailable online, pleasecontact us
Glycogen Storage Disease Type IX (autosomal) (PHKB, PHKG2) Currently unavailable online, please contact us
Glycogen Storage Disease Type X (PGAM2) Currently unavailable online, please contact us
Haemochromatosis Currently unavailable online, pleasecontact us
Haemophilia C/Factor XI deficiency Currently unavailable online, please contact us
Her2 Currently unavailable online, please contact us
Hereditary Ataxia and Migraine Next Generation Sequencing Panel* Currently unavailable online, please contact us
Hereditary Leiomyomatosis with renal cell carcinoma (HLRCC/MCUL) Currently unavailable online, please contact us
Hereditary Non Polyposis Carcinoma of Colon Currently unavailable online, please contact us
Hereditary Non Polyposis Carcinoma of Colon (HNPCC) Sequencing panel* (with MLPA dosage testing) Currently unavailable online, please contact us
Hereditary Spastic Paraparesis (HSP) Next Generation Sequencing Panel* Currently unavailable online, please contact us
Hereditary Spastic Paraparesis (dominant, pure)-SPAST gene Currently unavailable online, please contact us
Hereditary Spastic Paraparesis (dominant, pure)-ATL1 gene Currently unavailable online, please contact us
Hereditary Spastic Paraparesis (dominant, pure)-REEP1 gene Currently unavailable online, please contact us
Huntington disease Currently unavailable online, please contact us
Hypophosphatasia (ALPL) Currently unavailable online, please contact us
JAK2 (V617F mutation) Currently unavailable online, please contact us
JAK2 Exon 12 mutation screen (polycythaemia rubra vera/PRV) Currently unavailable online, please contact us
Karyotype See Chromosome Currently unavailable online, please contact us
KRAS ( v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog ) for CRC and NSCLC and other Currently unavailable online, please contact us
Leber Hereditary Optic Neuropathy (LHON) Currently unavailable online, please contact us
Leucine Proline-Enriched Proteoglycan (LEPRE1) – autosomal recessive OI. Currently unavailable online, please contact us
Long Chain 3-Hydroxyacyl CoAdehydrogenase (LCHAD) Deficiency Currently unavailable online, please contact us
Malt Lymphoma Currently unavailable online, please contact us
Mantle Cell Lymphoma Currently unavailable online, please contact us
Medium Chain Acyl CoAdehydrogenase (MCAD)Deficiency< Currently unavailable online, please contact us
MEN2 and Hirschsprung disease RET gene Currently unavailable online, please contact us
Microarray (see CGH ) Currently unavailable online, please contact us
Microsatellite Instability Analysis (MSI) Currently unavailable online, please contact us
Mitochondrial Disorder, mitochondrial cytopathy, MELAS, MERRF, NARP Currently unavailable online, please contact us
Multiple Endocrine Neoplasia Type 1 MEN1 gene Currently unavailable online, please contact us
Myelodysplastic syndromes (MDS) Currently unavailable online, please contact us
Myeloma - FISH Currently unavailable online, please contact us
Myeloproliferative disease (MPD) Currently unavailable online, please contact us
Myeloproliferative disorder/essential thrombocythaemia(ET)/polycythaemi a rubra vera (PRV)/ myelofibrosis (MF) – JAK2 Currently unavailable online, please contact us
MutYH-associated polyposis (MAP) (MUTYH gene) Currently unavailable online, please contact us
Neuroblastoma Currently unavailable online, please contact us
Osteogenesis Imperfecta autosomal dominant Next Generation Sequencing Panel Currently unavailable online, please contact us
Osteogenesis Imperfecta-autosomal recessive Next Generation Sequencing Panel Currently unavailable online, please contact us
Osteogenesis Imperfecta Type V(IFITM5) Currently unavailable online, please contact us
Osteoporosis and Osteoporosispseudoglioma syndrome (LRP5) Currently unavailable online, please contact us
Peptidylprolyl Isomerase B (cyclophilin B) PPIB Currently unavailable online, please contact us
Peroxisomal Biogenesis Disorders – Zellweger Syndrome Spectrum (PEX1, PEX6, PEX10, PEX12, PEX26) Currently unavailable online, please contact us
Phosphoglycerate Mutase (muscle, deficiency of) Currently unavailable online, please contact us
PIK3CA (Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide) Currently unavailable online, please contact us
Platelet-type pseudo von Willebrand Disease (GP1BA gene) Currently unavailable online, please contact us
Protein C Deficiency Currently unavailable online, please contact us
Protein S Deficiency Currently unavailable online, please contact us
Prothrombin (3’ non 20210G>A prothrombin variants) Currently unavailable online, please contact us
Pseudoxanthoma Elasticum Currently unavailable online, please contact us
Quantitative BCR-ABL (MRD) Currently unavailable online, please contact us
Retinoblastoma Currently unavailable online, please contact us
Sickle Cell Disease Currently unavailable online, pleasecontact us
Sickle Cell Disease (newborn screening – transfused babies) Currently unavailable online, please contact us
Spinal Muscular Atrophy, 5q-linked Currently unavailable online, please contact us
Spinal and Bulbar Muscular Atrophy (SBMA) (Kennedy disease), X-linked Currently unavailable online, please contact us
Spinocerebellar Ataxia, types 1-3, 6, 7, 12 and 17 Currently unavailable online, please contact us
Synovial Sarcoma Currently unavailable online, please contact us
Trimethylaminuria/Fish Odour Syndrome (FMO3) Currently unavailable online, please contact us
Tyrosine hydroxylase deficient doparesponsive dystonia (Segawa) Currently unavailable online, please contact us
UKALL2003/UKALLR3 MRD TRIALS Research trial Currently unavailable online, please contact us
Uniparental disomy chromosome 7 / Russell Silver syndrome Currently unavailable online, please contact us
Urea Cycle Disorders (OTC, CPS1, NAGS, ASL, ASS1, ARG1) Currently unavailable online, please contact us
Very-long-chain-acyl-CoA dehydrogenase (VLCAD) Deficiency Currently unavailable online, please contact us
von Willebrand Disease platelet type pseudo (GP1BA gene) Currently unavailable online, please contact us
Warfarin resistance (VKORC1 gene) Currently unavailable online, please contact us
Wilms Tumour, Frasier syndrome, Denys Drash syndrome, (Wilms Tumour Suppressor) WT1 gene sequencing and MLPA Currently unavailable online, please contact us

News

Transactional website goes live offering specialist genetic testing

 

First tests to go live are Glycogen Storage Disease Next Generation Sequencing Panels: Liver, Metabolic Myopathies / Rhabdomyolysis & Wilson Disease. 

Keep a look out for more tests added soon!