| Test |
Specimen Type |
Volume |
Turnaround Time |
|
Acute Lymphoblastic Leukaemia (ALL)/BCR-ABL
|
Blood/Bone marrow |
0.5-5ml EDTA |
2-4 weeks |
|
Acute Lymphoblastic Leukaemia (ALL)/BCR-ABL
|
Bone marrow/leukaemic blood |
Universal with 5-10ml of transport medium/Li Hep tube |
10 days |
|
Acute Myeloid Leukaemia (AML) (+/-FISH)
|
Bone marrow/leukaemic blood |
Universal with 5-10ml of transport medium/Li Hep tube |
10 days |
|
Acute Myeloid Leukaemia /AML/AML-M2/AML-17
|
Blood/Bone marrow |
0.5-5ml EDTA Send to Lab immediately |
2-4 weeks |
|
Acute Myeloid Leukaemia /AMLFlt3/NPM1 mutation screen
|
Blood/Bone marrow |
0.5-5ml EDTA |
2 weeks |
|
Acute Promyelocytic Leukaemia(APL)/AML M3/AML-17
|
Blood/Bone marrow |
0.5-5ml EDTA Send to Lab immediately |
2-4 weeks |
|
Adrenoleukodystrophy (ALD) (X-linked)
|
Blood |
0.5-5ml EDTA
|
2-8 weeks |
|
Alpha Thalassaemia
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Alveolar Rhabdomyosarcoma
|
PETS 2x4μm |
sections on slides |
14 days |
|
Amylotrophic Lateral Sclerosis and Dementia Next Generation Sequencing Panel*
|
Blood |
0.5-5ml EDTA *see website for panel content |
16 weeks |
|
Anaplastic large cell lymphoma, ALK positive
|
PETS 2x4μm |
sections on slides |
14 days |
|
Androgen Insensitivity Syndrome (Testicular Feminisation)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Antithrombin Deficiency
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Aneuploidy FISH test
|
Amniotic fluid sample |
2-5ml in sterile universal |
2-3 days |
|
Apolipoprotein E (APOE)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
| Array CGH (see CGH / microarray) |
|
|
|
|
Ataxia Telangiectasia
|
Blood |
Min 4ml Li Hep *Inform lab prior to sample dispatch |
28 days |
|
Bernard-Soulier syndrome (GP1BA, GB1BB, GP9)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Beta Thalassaemia
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Bladder Cancer
|
PETS 2x4μm |
sections on slides |
14 days |
|
Blooms Syndrome
|
Blood 3-4ml |
Li Hep *Inform lab prior to sample dispatch |
28 days |
|
BRAF (V-raf murine sarcoma viral oncogenes homolog B1) p.Val600Glu mutation
|
PETS 8x10μm |
sections in universal |
1-2 weeks |
|
BRCA1 & BRCA2
|
Blood |
0.5-5ml EDTA |
8 weeks full screen,
2 weeks predictive
Performed by Next Generation Sequencing*& MLPA |
|
Breast Cancer (Her2) FISH
|
PETS 2x4μm |
sections on slides *Contact Lab prior to referral |
1-2 weeks |
|
Breast & Ovarian Cancer Next Generation Sequencing Panel*
|
Blood |
0.5-5ml EDTA *see website for panel content |
8 weeks |
|
Bruck Syndrome (PLOD2)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Burkitt Lymphoma
|
PETS 2x4μm |
sections on slides |
14 days |
Carnitine Acylcarnitine Translocase (CACT) Deficiency
|
Blood or Fibroblasts |
0.5-5ml EDTA |
2-8 weeks |
|
Carnitine Palmitoyl Transferase Type2 (CPT2) Deficency
|
Blood or Fibroblasts |
0.5-5ml EDTA |
2-8 weeks |
|
Cartilage-associated protein (CRTAP)-autosomal recessive OI.
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
CBCL/CTCL / Skin lymphoma/ mycosis fungoides (IgH or T cell gene rearrangements)
|
Paraffin embedded tissue biopsy |
5 ım unmounted sections |
2-8 weeks |
|
Cerebral AD Arteriopathy with Subcortical Infarcts & Leukoencephalopathy (CADASIL)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
CGH/microarray
|
Blood |
2-3ml EDTA AND 2-3mls Li Hep |
4 weeks Please note blood in EDTA and Li Hep are required |
|
Chimerism/pre or post bone marrow/stem cell transplant (BMT/SCT)/donor for BMT/SCT/matched unrelated donor (MUD) – Sex matched (Powerplex)
|
Blood/Bone marrow |
0.5-5ml EDTA |
2 weeks |
| Chimerism/pre or post bone marrow/stem cell transplant (BMT/SCT)/donor for BMT/SCT/matched unrelated donor (MUD) – Sex mis-matched (FISH) |
Blood/Bone marrow |
2-3ml Li Hep |
2 weeks |
|
Chromosome – Adult (with or without FISH)
|
Blood |
2-3ml Li Hep |
28 days |
|
Chromosome – Child (with or without FISH)
|
Blood |
1-2ml Li Hep |
28 days |
|
Chromosome – Neonate
|
Blood |
0.5 – 1ml* Li Hep |
10 days * smaller samples can be attempted but may reduce the likelihood of a successful result |
| Chromosome (with or without FISH) PRENATAL |
Amniotic Fluid sample |
10-20ml sterile universal |
14 days |
| Chromosome (with or without FISH) PRENATAL |
CVS |
3-4 fronds sterile universal |
14 days |
| Chromosome (with or without FISH) PRENATAL |
Fetal blood cordocentesis |
0.5-1ml Li Hep |
10 days |
| Chromosome (with or without FISH) POSTNATAL |
Cord blood |
1-3ml Li Hep |
10 days |
|
Chromosome (with or without FISH) FETAL LOSS
|
Placental, fetal membrane and cord biopsies |
<1cm cubed Sterile tissue culture medium pots |
2-3 weeks See our “additional information” page for information regarding sending |
| Chromosome (with or without FISH) |
Skin biopsy |
1-2mm cubed Sterile tissue culture medium |
2-3 weeks |
| Chromosome (with or without FISH) |
Solid Tumour Biopsy |
<1cm cubed Universal with 5-10ml of transport medium |
2-3 weeks |
|
Chronic Lymphoproliferative Leukaemia (CLL) –FISH
|
Bone marrow |
Universal with 5-10ml of transport medium /Li Hep |
28 days |
|
Chronic Myeloid Disease (CML) (+/- FISH)
|
Bone marrow /leukaemic blood |
0.25-1ml/5-10ml Universal with 5-10ml of transport medium /Li Hep |
28 days Urgent samples have a TAT of 10 days |
| Chronic Myeloid Leukaemia (CML)/BCR-ABL |
Blood / Bone marrow |
0.5-5ml EDTA *Send to Lab immediately |
2 weeks |
|
Colorectal Cancer NGS Extended Sequencing Panel*
|
Blood |
0.5-5ml EDTA *see website for panel content |
8 weeks |
|
Congenital Thrombotic Thrombocytopenic Purpura (ADAMTS13 deficiency)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Connective Tissue Disorders Next Generation Sequencing Panel (see website for list of sub-panels and gene content)
|
Blood |
0.5-5ml EDTA *see website for panel content |
12 weeks |
|
Congenital Bilateral Absence of Vas Deferens (CBAVD)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Crigler-Najjar Syndrome types I and II
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
| Cystic Fibrosis |
Blood or Dried bloodspots |
0.5-5ml EDTA |
2-8 weeks |
|
Dentatorubral-pallidoluysian atrophy (DRPLA)
|
Blood |
0.5-5ml EDTA |
2-6 weeks |
|
Dermatofibrosarcoma protuberans
|
|
PETS 4x4μm sections on slides |
14 days |
|
Diamond Blackfan Anaemia (RPS19)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Diamond Blackfan Anaemia (dosage testing byMLPA)
|
Blood |
0.5-5ml EDTA |
8 weeks |
|
Dopa-responsive dystonia (Segawa syndrome), dominant
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Down Syndrome – PRENATAL (with or without FISH)
|
Amniotic Fluid |
10-20ml sterile universal |
14 days *Rapid FISH test usually reported the next working day. |
|
Down Syndrome – POSTNATAL NEONATE (with or without FISH**)
|
Blood |
0.5 – 1ml* Li Hep |
10 days * Smaller samples can be attempted but may reduce the likelihood of a successful result. **Rapid FISH test usually reported the next working day |
|
Dystonia and Parkinsonism Next Generation Sequencing Panel
|
Blood |
0.5-5ml EDTA |
16 weeks *see website for |
|
Dystonia 1 (DYT1) or Idiopathic Torsion Dystonia, dominant
|
Blood |
0.5-5ml EDTA |
2-6 weeks |
|
Dystrophia myotonica (DM)
|
Blood |
0.5-5ml EDTA |
2 weeks |
|
EGFR (exons 18-21)
|
PETS 8x10μm sections in universal |
EGFR testing form required please contact laboratory |
5 days |
|
Ehlers Danlos Next Generation Sequencing Panels (Vascular, Classic and Kyphoscoliotic)
|
Blood |
0.5-5ml EDTA |
12 weeks *see website for panel content |
| Ehlers-Danlos Syndrome Classical (COL5A1 and COL5A2) |
Blood |
0.5-5ml EDTA |
2-8 weeks |
| Ehlers-Danlos Syndrome Classical (COL5A1) - Null allele |
Skin biopsy/cultured fibroblasts |
|
2-8 weeks |
|
Ehlers-Danlos Syndrome - Hypermobile (TNXB)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Ehlers-Danlos Syndrome - KMH (FKBP14)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
| Ehlers-Danlos Syndrome - Kyphoscoliotic (PLOD1) |
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Ehlers-Danlos Syndrome - Musculocontractural (CHST14)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Ehlers-Danlos Syndrome - Vascular (COL3A1)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
| Ehlers-Danlos Syndrome - arthrochalasic (COL1A1 and COL1A2) |
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Episodic Ataxia type 1
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
| Episodic Ataxia type 2 |
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Ewings Sarcoma and rearrangements of EWSR1 associated with clear cell sarcoma, extraskeletal myxoid chondrosarcoma and desmoplastic small round cell tumour
|
PETS 2x4μm |
sections on slides |
14 days |
|
Factor XIII Deficiency
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Factor XI Deficiency (Haemophilia C)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Familial Adenomatous Polyposis Coli (FAP)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Familial Adenomatous Polyposis Coli (FAP) & MUTYH Sequencing Panel*
|
Blood |
0.5-5ml EDTA *see website for panel content |
8 weeks, |
| Familial Hemiplegic migraine type 1 |
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Familial Hypercholesterolaemia (LDLR sequencing and MLPA; ApoB p.(Arg3527Gln) mutation analysis; PCSK9 p.(Asp374Tyr) mutation analysis).
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Familial Motor Neurone Disease / amyotrophic lateral sclerosis with or without frontotemporal dementia (ALS/FTD) C9orf72 gene
|
Blood |
0.5-5ml EDTA |
2 weeks |
| Familial Motor Neurone Disease / amyotrophic lateral sclerosis (ALS) SOD1 gene |
Blood |
0.5-5ml EDTA |
2-8 weeks |
| Familial Motor Neurone Disease / amyotrophic lateral sclerosis (ALS) TARDBP gene |
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Familial Porencephaly (COL4A1& COL4A2) by Next Generation Sequencing
|
Blood 0.5-5ml EDTA |
*see website for all CTD NGS panels & content |
12 weeks |
| Familial Thoracic Aortic Aneurysms Next Generation Sequencing Panel |
Blood 0.5-5ml EDTA |
*see website for all CTD NGS panels |
12 weeks |
|
Fanconi Anaemia (Chromosome Breakage Studies)
|
Blood 3-4ml Li Hep |
Inform lab prior to sample dispatch |
28 days |
|
Fanconi Anaemia by Next Generation Sequencing (16 genes)
|
Blood 0.5-5ml EDTA |
*see website for panel content |
12 weeks |
| Fanconi Anaemia by Next Generation Sequencing (individual genes) |
Blood 0.5-5ml EDTA |
*see website for panel content |
8 weeks |
|
Follicular lymphoma/DLBCL
|
PETS 2x4μm |
sections on slides |
14 days |
|
Fragile X Syndrome
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Friedreich Ataxia
|
Blood |
0.5-5ml EDTA |
2-6 weeks |
|
Fructose-1,6-bisphosphatase deficiency
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Fumarate Hydratase Deficiency
|
Blood or Fibroblasts |
0.5-5ml EDTA |
2-8 weeks |
|
Gilbert Syndrome
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Glanzmann Thrombasthenia
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Glioma
|
PETS 4x4μm |
sections on slides |
14 days |
Glucose Transporter 1 (GLUT1) deficiency syndrome (SLC2A1 sequencing and MLPA)
|
Blood
|
0.5-5ml EDTA |
2-8 weeks |
|
Glutaric Acidaemia Type 1(GA1)
|
Blood or Fibroblasts |
0.5-5ml EDTA |
2-8 weeks |
| Glycogen Storage Disease Next Generation Sequencing Panels: Liver, Muscle, Heart, Generalised Panel* |
Blood |
0.5-5ml EDTA *content for each panel is listed on website |
8 weeks |
|
Glycogen Storage Disease Type 0 (GYS2 – liver, GYS1 - muscle)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Glycogen Storage Disease Type 1a (von Gierke disease) (G6PC)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Glycogen Storage Disease Type 1 non-a (SLC37A4)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Glycogen Storage Disease Type II (Pompe disease) (GAA)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Glycogen Storage Disease Type III (AGL)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Glycogen Storage Disease Type IV (Andersen disease) (GBE1)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Glycogen Storage Disease Type V (McArdle disease) (PYGM)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Glycogen Storage Disease Type VI (Hers Disease)(PYGL)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Glycogen Storage Disease Type VII (Tarui disease)(PFKM)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
Glycogen Storage Disease Type IX (X-linked) (PHKA2 – liver, PHKA1 - muscle)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
| Glycogen Storage Disease Type IX (autosomal) (PHKB, PHKG2) |
Blood |
0.5-5ml EDTA |
2-8 weeks |
| Glycogen Storage Disease Type X (PGAM2) |
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Haemochromatosis
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Haemophilia A/Factor VIII deficiency
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Haemophilia B/Factor IX deficiency
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Haemophilia C/Factor XI deficiency
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Her2
|
Paraffin Embedded Tissue Biopsy |
|
1-2 weeks Contact Lab prior to release |
|
Hereditary Ataxia and Migraine Next Generation Sequencing Panel*
|
Blood |
0.5-5ml EDTA |
16 weeks * see website for panel content |
|
Hereditary Leiomyomatosis with renal cell carcinoma (HLRCC/MCUL)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Hereditary Non Polyposis Carcinoma of Colon
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Hereditary Non Polyposis Carcinoma of Colon (HNPCC) Sequencing panel* (with MLPA dosage testing)
|
Blood |
0.5-5ml EDTA |
8 weeks * see website for panel content |
|
Hereditary Spastic Paraparesis (HSP) Next Generation Sequencing Panel*
|
Blood |
0.5-5ml EDTA |
16 weeks * see website for panel content |
|
Hereditary Spastic Paraparesis (dominant, pure)-SPAST gene
|
Blood |
0.5-5ml EDTA |
2-8 weeks Blood in EDTA required for MLPA |
Hereditary Spastic Paraparesis
(dominant, pure)-ATL1 gene
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Hereditary Spastic Paraparesis (dominant, pure)-REEP1 gene
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Huntington disease
|
Blood |
0.5-5ml EDTA |
2 weeks |
|
Hypophosphatasia (ALPL)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Immunoglobulin heavy chain gene rearrangement (IgH)/B cell lymphocytosis/B cell gene rearrangement
|
Blood / Bone Marrow |
0.5-5ml EDTA |
2-4 weeks |
| Immunoglobulin heavy chain gene rearrangement (IgH)/B cell lymphocytosis/B cell gene rearrangement/CBCL |
PETS 25x5μm |
sections in universal |
2-4 weeks depending on clinical need |
|
JAK2 (V617F mutation)
|
Blood / Bone Marrow |
0.5-5ml EDTA |
2 weeks |
|
JAK2 Exon 12 mutation screen (polycythaemia rubra vera/PRV)
|
Blood / Bone Marrow |
0.5-5ml EDTA |
2 weeks |
| Karyotype See Chromosome |
|
|
|
|
KRAS ( v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog ) for CRC and NSCLC and other
|
PETS 8x10μm sections in universal |
|
5 days |
|
Leber Hereditary Optic Neuropathy (LHON)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Leucine Proline-Enriched Proteoglycan (LEPRE1) – autosomal recessive OI.
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Long Chain 3-Hydroxyacyl CoAdehydrogenase (LCHAD) Deficiency
|
Blood or Guthrie spots |
0.5 -5ml EDTA |
2 weeks |
|
Malt Lymphoma
|
PETS 2x4μm |
sections on slides |
14 days |
|
Mantle Cell Lymphoma
|
PETS 2x4μm |
sections on slides |
14 days |
Medium Chain Acyl CoAdehydrogenase (MCAD)Deficiency
|
Blood or Guthrie spots
|
0.5-5ml EDTA |
2-8 weeks |
|
MEN2 and Hirschsprung disease RET gene
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
Metabolic Myopathy Screen (CPT2, PYGM common mutations)
|
Blood |
0.5-5ml EDTA |
6 weeks |
| Microarray (see CGH ) |
|
|
|
| Microsatellite Instability Analysis (MSI) |
Blood and PETS |
8x10μm sections in universal 0.5-5ml |
8 weeks |
Mitochondrial Disorder, mitochondrial cytopathy, MELAS, MERRF, NARP
|
Blood |
0.5-5ml EDTA *Contact Lab prior to referral |
2-8 weeks |
Multiple Endocrine Neoplasia Type 1 MEN1 gene
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Myelodysplastic syndromes (MDS)
|
Bone Marrow |
0.25-1ml Universal with 5-10ml of transport medium
|
28 days |
| Myeloma - FISH |
Blood / bone marrow |
Universal with 5-10ml of transport medium /Li Hep |
28 days |
| Myeloproliferative disease (MPD) |
Bone marrow |
0.25-1ml Universal with 5-10ml of transport medium |
28 days |
| Myeloproliferative disorder/essential thrombocythaemia(ET)/polycythaemi a rubra vera (PRV)/ myelofibrosis (MF) – JAK2 |
Blood / Bone marrow |
0.5-5ml EDTA |
2 weeks |
| MutYH-associated polyposis (MAP) (MUTYH gene) |
Blood |
0.5-5ml EDTA |
2-4 weeks |
| Neuroblastoma |
PETS 2x4μm sections on slides |
|
14 days |
|
Osteogenesis Imperfecta autosomal dominant Next Generation Sequencing Panel
|
Blood |
0.5-5ml EDTA |
2-8 weeks *see website for all CTD NGS panels& content |
|
Osteogenesis Imperfecta-autosomal recessive Next Generation Sequencing Panel
|
Blood |
0.5-5ml EDTA |
2-8 weeks *see website for all CTD NGS panels &content |
|
Osteogenesis Imperfecta Type V(IFITM5)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Osteoporosis and Osteoporosispseudoglioma syndrome (LRP5)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Peptidylprolyl Isomerase B (cyclophilin B) PPIB
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Peroxisomal Biogenesis Disorders – Zellweger Syndrome Spectrum (PEX1, PEX6, PEX10, PEX12, PEX26)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Phosphoglycerate Mutase (muscle, deficiency of)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
PIK3CA (Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide)
|
PETS 8x10μm |
sections in universal |
1-2 weeks |
|
Platelet-type pseudo von Willebrand Disease (GP1BA gene)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
| Polycystic Kidney Disease (autosomal dominant) PKD1 & PKD 2 genes |
Blood |
1-5ml EDTA |
2-8 weeks |
|
Protein C Deficiency
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Protein S Deficiency
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Prothrombin (3’ non 20210G>A prothrombin variants)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Pseudoxanthoma Elasticum
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Quantitative BCR-ABL (MRD)
|
Blood/Bone marrow |
0.5-5ml EDTA *Send to Lab immediately |
2 weeks |
|
Retinoblastoma
|
Blood |
2-3ml Li Hep |
28 days |
|
Sickle Cell Disease
|
Blood |
0.5-5ml EDTA |
2 weeks |
|
Sickle Cell Disease (newborn screening – transfused babies)
|
Dried Bloodspot |
Referrals via Newborn Screening only |
2 weeks |
|
Spinal Muscular Atrophy, 5q-linked
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Spinal and Bulbar Muscular Atrophy (SBMA) (Kennedy disease), X-linked
|
Blood |
0.5-5ml EDTA |
2-6 weeks |
|
Spinocerebellar Ataxia, types 1-3, 6, 7, 12 and 17
|
Blood |
0.5-5ml EDTA |
2-6 weeks |
|
Synovial Sarcoma
|
PETS 2x4μm |
sections on slides |
14 days |
|
T cell lymphocytosis / T cell receptor gene rearrangements (TCR)
|
Blood / Bone marrow |
0.5-5ml EDTA *Send to Lab immediately |
2-4 weeks |
| T cell lymphocytosis / T cell receptor gene rearrangements (TCR)/CTCL |
PETS 25x5μm |
sections in universal |
2-4 weeks depending on clinical need |
|
Trimethylaminuria/Fish Odour Syndrome (FMO3)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Tyrosine hydroxylase deficient doparesponsive dystonia (Segawa)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
| UKALL2003/UKALLR3 MRD TRIALS Research trial |
Bone marrow 2.5-10ml |
Peripheral blood in ACD is acceptable at diagnosis if WCC is > 20x10^9/l |
Dependant on time point |
|
Uniparental disomy chromosome 7 / Russell Silver syndrome
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Urea Cycle Disorders (OTC, CPS1, NAGS, ASL, ASS1, ARG1)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Very-long-chain-acyl-CoA dehydrogenase (VLCAD) Deficiency
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
von Willebrand Disease type 1-3r
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
von Willebrand Disease platelet type pseudo (GP1BA gene)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Warfarin resistance (VKORC1 gene)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Wilms Tumour, Frasier syndrome, Denys Drash syndrome, (Wilms Tumour Suppressor) WT1 gene sequencing and MLPA
|
Blood |
0.5-5ml EDTA |
2-8 weeks |
|
Wilson disease (ATP7B)
|
Blood |
0.5-5ml EDTA |
2-8 weeks |