| Available Tests |
Specimen Type |
Turnaround Time |
|
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
|
| Immunoglobulin heavy chain gene rearrangement (IgH)/B cell lymphocytosis/B cell gene rearrangement |
Currently unavailable online, please contact us
|
| Immunoglobulin heavy chain gene rearrangement (IgH)/B cell lymphocytosis/B cell gene rearrangement/CBCL |
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
|
| T cell lymphocytosis / T cell receptor gene rearrangements (TCR) |
Currently unavailable online, please contact us
|
| T cell lymphocytosis / T cell receptor gene rearrangements (TCR)/CTCL |
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
|