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Genetics tests

If you do not find the test you require in this directory, or need more information and advice please telephone the laboratory on 020 7307 7409.

Please use the search box below to filter this list

Test name
1p36 Deletion Syndrome – karyotype + CGH
21-Hydroxylase Deficiency (Congenital Adrenal Hyperplasia)
22q11 & 10p14 deletion (Di George Syndrome) – BOBs only
22q11 & 10p14 deletion (Di George Syndrome) – BOBs (5 days) + karyotype (15 days)
Achromatopsia NGS Panel
Adenomatous Polyposis NGS Panel
Afibrinogenemia, congenital
Aicardi-Goutières Syndrome NGS Panel
Alagille Syndrome NGS Panel
Alpha Thalassaemia – multiplex PCR for common large deletions
Alpha-1-Antitrypsin Genotype – PI*M, PI*S, PI*Z
Alpha-2-Plasmin Inhibitor Deficiency
Alport Syndrome NGS Panel – full sequencing with deletions and duplications
AmnioBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes
Amniocentesis – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
Amniocentesis – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days)
Amniocentesis culture (karyotype) only
AmnioPCR only – rapid common aneuploidy diagnosis by QF-PCR
Amylotrophic Lateral Sclerosis (Motor Neurone Disease) NGS Panel
Androgen Insensitivity – AR gene sequencing
Angelman Syndrome (Primary Screen) – methylation PCR
Angelman/Rett Syndromes NGS Panel
Aniridia, Isolated – PAX6 gene sequencing + deletions/duplications
Anophthalmia/Microphthalmia/Coloboma NGS Panel
Apolipoprotein E genotype – E2/E3/E4
Array CGH (Comparative Genomic Hybridisation)
Ashkenazi Breast Cancer Screen – common variants
Ashkenazi Jewish Carrier Screen
Ataxia NGS Panel
Autoinflammation/Periodic Fever NGS Panel
Azoospermia – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions
B cell clonality assay (IgH and IgK)
Bardet-Biedl Syndrome NGS Panel
Batten Disease (Neuronal Ceroid Lipofuscinosis) NGS Panel
BCR-ABL Diagnostic Assay
BCR/ABL Quantitative – fusion gene sizes p190 + p210
Becker/Duchenne Muscular Dystrophy – deletions/duplications
Beckwith-Wiedemann Syndrome – methylation studies on 11p15 imprinting domains KvDMR + H19
Behcet’s Disease – HLA Tissue Typing B*51
Bernard-Soulier Syndrome
Beta Thalassaemia – beta-globin gene sequencing
Bleeding and Platelet Gene Panel
Bleeding Disorder of Unknown Cause
Blood PCR for Chromosome 13, 18, 21 and sex chromosomes
Breast Cancer – BRCA1 + BRCA2 genes only
Breast Cancer Ashkenazi Screen – common variants
Breast Cancer NGS Panel
Brugada Syndrome/Long QT Syndrome NGS Panel
C-KIT D816V variant – Mastocytosis
CADASIL – NOTCH3 gene sequencing
CAKUT (Congenital Anomalies of Kidney & Urinary Tract) NGS Panel
Cancer, Comprehensive NGS Panel
Cardiomyopathy, Dilated NGS Panel
Cardiomyopathy, Hypertrophic NGS Panel
Cardiovascular, Comprehensive NGS Panel
Carrier Screen (Ashkenazi Jewish)
Carrier Screen (Ashkenazi Jewish) – Partnered Report
Carrier Screen (Pan-Ethnic)
Carrier Screen (Pan-Ethnic) – Partnered Report
Charcot-Marie-Tooth Syndrome NGS Panel
Charcot-Marie-Tooth Type 1A – PMP22 duplications
CHARGE Syndrome – CHD7 gene sequencing
Chediak-Higashi Syndrome
Cholestasis NGS Panel
Chromosome Analysis (Amniocentesis) – culture only
Chromosome Analysis (Amniocentesis) – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
Chromosome Analysis (Amniocentesis) – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days)
Chromosome Analysis (Blood)
Chromosome Analysis (Chorionic Villus) – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
Chromosome Analysis (Chorionic Villus) – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days)
Chromosome Analysis (Chorionic Villus) – culture only
Chromosome Analysis (Products of Conception)
Chromosome Analysis (Products of Conception) – BOBs rapid aneuploidy diagnosis for all chromosomes (10 days) + culture (25 days)
Chromosome Analysis (Solid Tissue)
Chromosome Y Deletion – AZFa, AZFb, AZFc + SRY
Coeliac Disease – HLA DQ2/DQ8 Genotype
Colorectal Cancer NGS Panel
Comparative Genomic Hybridisation (Array CGH)
Congenital Absence of Vas Deferens – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions
Congenital Adrenal Hyperplasia NGS Panel
Congenital Myopathy NGS Panel
Connective Tissue Disorders NGS Panel
Cornelia de Lange Syndrome NGS Panel
Craniosynostosis NGS Panel
Cri du Chat Syndrome – BOBs (5 days) + karyotype (15 days)
Cri du Chat Syndrome – BOBs only
CVS PCR for common aneuploidies (2 days) + culture (10-15 days)
CVSBOBs – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
CVSBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes
Cystic Fibrosis (139 common variants) – reflex to Poly T when required
Cytochrome P450 2C19
Diabetes – Obesity NGS Panel
DiGeorge Syndrome (22q11 & 10p14 deletion) – BOBs (5 days) + karyotype (15 days)
DiGeorge Syndrome (22q11 & 10p14) – BOBs only
Dihydropyrimidine Dehydrogenase deficiency screening (Fluoropyrimidine Toxicity)
Dilated Cardiomyopathy NGS Panel
DNA Extraction & Storage – 3 years (longer upon request)
DNA Identity Profile – 15 STR markers
Duchenne Muscular Dystrophy – deletions/duplications only
Duchenne Muscular Dystrophy – full sequencing DMD1 gene
DVT/Pre-travel Screen
Dysfibrinogenemia, congenital
Ehlers-Danlos Syndrome (associated with bleeding)
Endometrial Cancer NGS Panel
Epidermolysis Bullosa NGS Panel
Epilepsy, Adolescent/Adult Onset Panel
Epilepsy, Comprehensive NGS Panel
Fabry Disease, X-linked – GLA gene sequencing
Facioscapulohumeral Muscular Dystropy (FSHD) – D4Z4 repeat deletion
Factor II Deficiency (full gene analysis)
Factor II Prothrombin – G20210A Variant
Factor V and Factor VIII, combined deficiency of
Factor V Leiden – G1691A Variant
Factor V Deficiency (full gene analysis)
Factor VII Deficiency
Factor X Deficiency
Factor XI Deficiency
Factor XII Deficiency
Factor XIII Deficiency
Familial Adenomatous Polyposis (FAP) NEW
Familial Exudative Vitreoretinopathy (FEVR) NGS Panel – full gene sequencing
Familial Hypercholesterolaemia NGS panel
Familial Hypocalciuric Hypercalcaemia (FHH) Panel
Familial Medullary Thyroid Carcinoma – hotspot sequencing RET gene
Fatty Acid Oxidation Deficiency NGS Panel
Fletcher Factor (Prekallikrein) Deficiency
FLT3-ITD and FLT3-TKD screening assay
Fragile X Syndrome screen – FMR1 repeat analysis PCR
Friedreich Ataxia – frataxin gene repeat analysis
Gaucher Disease
Gaucher Disease full gene sequencing
Genetic Reproductive Profile (Male)
Ghosal Hematodiaphyseal Syndrome
Giant Platelet Disorder
Gilbert Syndrome – common UGT1A1 repeat variation
Glanzmann Thrombasthenia
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – full G6PD gene sequencing
Glycogen storage disease type 2 (Pompe) variant analysis
Gray Platelet Syndrome
Haemochromatosis – HFE common variants C282Y + H63D
Haemophilia A (Factor VIII Deficiency)
Haemophilia A (Factor VIII deficiency) – CVS
Haemophilia B (Factor IX Deficiency)
Haemophilia B (Factor IX deficiency) – CVS
Hearing Loss NGS Panel
Hemophagocytic Lymphohistiocytosis, Familial
Hereditary Colorectal Cancer NGS Panel
Hereditary Comprehensive Cancer NGS Panel
Hereditary Neuropathy with Liability to Pressure Palsy – PMP22 deletion analysis
Hereditary Spastic Paraplegia Comprehensive NGS Panel
Hermansky-Pudlak Syndrome
HFE gene (Haemochromatosis) – common variants C282Y + H63D
Hirschprung Disease NGS Panel
HLA Tissue Typing A
HLA Tissue Typing A+B
HLA Tissue Typing A+B+C (Class I)
HLA Tissue Typing A/B/DRB1/3/4/5
HLA Tissue Typing A/B/DRB1/3/4/5/DQB1
HLA Tissue Typing A/B/C/DRB1/3/4/5/DQB1 (Class I & II)
HLA Tissue Typing B
HLA Tissue Typing B*27 only
HLA Tissue Typing B*51 (Behcet’s Disease)
HLA Tissue Typing B*57:01 high resolution
HLA Tissue Typing C
HLA Tissue Typing Coeliac Disease – DQ2/DQ8
HLA Tissue Typing DRB1/3/4/5
HLA Tissue Typing DRB1/3/4/5/DQB1 (Class II)
HLA Tissue Typing Narcolepsy – DQB1*06:02
Huntington Disease – HD gene repeat analysis PCR
Hyperinsulinism NGS Panel
Hyperparathyroidism – CASR sequencing
Hypodysfibrinogenemia, Congenital
Identity Profile (DNA) – 15 STR markers
IDH1/2 screening assay
IgVH variant analysis for CLL
Intellectual Disability NGS Panel
Iron Overload Profile
Joubert/Meckel-Gruber Syndrome NGS Panel
Kallmann Syndrome NGS Panel
Kennedy Disease (Spinal Bulbar Muscular Atrophy) – AR repeat expansion
Kidney/Urinary Tract Comprehensive Cancer NGS Panel
KRAS/NRAS screening assay
Lactose Intolerance Gene
Langer-Giedion Syndrome – BOBs (5 days) + karyotype (15 days)
Langer-Giedion Syndrome – BOBs only
Leber’s Hereditary Optic Neuropathy – m.3460G>A + m.11778G>A + m.14484T>C common variants
Leukaemia (Rapid Acute) DNA and RNA NGS Panel
Leukaemia Fusion Gene Screening Assay (Q30)
Leukaemia/Lymphoma RNA Sequencing (Fusion Gene and SNV/Indel) Panel
Leukocyte Integrin Adhesion Deficiency
Li-Fraumeni Syndrome (p53-related cancer predisposition) – TP53 sequencing + MLPA
Limb-Girdle Muscular Dystrophy (LGMD) NGS Panel
Lissencephaly NGS Panel
Long QT Syndrome/Brugada Syndrome NGS Panel
Lung Disorders NGS Panel
Lynch Syndrome (HNPCC) NGS Panel NEW
Lysosomal Storage Disorders NGS Panel – full gene sequencing
Male Genetic Reproductive Profile
Marfan Syndrome – FBN1 sequencing + deletions/duplications
Marfan Syndrome and Aortic Aneurysm and Dissection NGS Panel
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel
Maturity-Onset Diabetes of the Young (MODY) Diabetes NGS Panel
Meckel-Gruber/Joubert Syndrome NGS Panel
Medium-Chain Acyl-CoA Dehydrogenase Deficiency – ACADM sequencing
Melanoma Comprehensive Cancer NGS Panel
Microdeletion (common) Syndromes – BOBs only
Microphthalmia/Anophthalmia/Coloboma NGS Panel
Miller-Dieker Syndrome – BOBs (5 days) + karyotype (15 days)
Miller-Dieker Syndrome – BOBs only
Mitochondrial Genome Sequencing
Motor Neurone Disease (Amylotrophic Lateral Sclerosis) NGS Panel
MTHFR – common C677T + A1298C variants
Mucopolysaccharidosis NGS Panel
Multiple Endocrine Neoplasia Type 1 – full MEN1 sequencing
Multiple Endocrine Neoplasia Type 2 – RET gene hotspot sequencing
Myeloid Gene Panel
Myeloproliferative Neoplasm NGS Screening Panel NEW
Myotonic Dystrophy Type 1 – DMPK repeat PCR
Myotonic Dystrophy Type 2 (PROMM) – ZNF9 repeat PCR
Narcolepsy (HLA DQB1*06:02)
Nephrotic Syndrome, Steroid-Resistant NGS Panel
Nervous System/Brain Cancer NGS Panel
Neurofibromatosis Type 1 – NF1 + SPRED1 sequencing + deletions/duplications
Neuronal Ceroid Lipofuscinosis (Batten Disease) NGS Panel
Non-Invasive Prenatal Testing (NIPT) – common aneuploidy screening from maternal blood NEW
Noonan Syndrome and RASopathies NGS Panel
Nystagmus, X-linked Infantile – FRMD7 gene sequencing
Osteogenesis Imperfecta NGS Panel
Ovarian Cancer NGS Panel
p53-related cancer predisposition (Li-Fraumeni Syndrome) – TP53 sequencing + MLPA
Pancreatic Cancer NGS Panel
Paraganglioma/Pheochromocytoma NGS Panel
Paroxysmal Nocturnal Hemoglobinuria
Paternity Testing (postnatal and prenatal) – sample required from each person being tested (3 people)
Pelizaeus-Merzbacher Disease – PLP1 sequencing + deletions/duplications
Pendred Syndrome – SLC26A4 gene sequencing
Periodic Fever/Autoinflammation NGS Panel
Peutz-Jegher Syndrome – STK11 sequencing + deletions/duplications
Phelan-McDermid Syndrome – karyotype + FISH
Pheochromocytoma/Paraganglioma NGS Panel
Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Deficiency
Platelet-type Bleeding Disorder
POLG-Related Disorders – full POLG sequencing + deletions and duplications
Polycystic Kidney NGS Panel
Pontocerebellar Hypoplasia NGS Panel
Postnatal array CGH
Prader-Willi Syndrome (Primary Screen) – methylation PCR
Prenatal array CGH
Prenatal Diagnosis (BOBs + Culture)
Pre-Travel Screen (DVT)
Primary Ciliary Dyskinesia (PCD) NGS Panel
Primary Hyperoxaluria NGS Panel
Products of Conception – rapid BOBs aneuploidy diagnosis for all chromosomes (10 days) + culture (25 days)
Products of Conception (BOBs + Culture)
Products of Conception BOBs only – rapid aneuploidy diagnosis for all chromosomes
Prostate Cancer NGS Panel
QF-PCR rapid common aneuploidy screen
Quebec Platelet Disorder
Recurrent Miscarriage Profile (female)
Renal Cysts and Diabetes (RCAD) – HNF-1β sequencing exons 1-9 and dosage analysis by MLPA
Renal/Urinary Tract Cancer NGS Panel
Retinoblastoma – RB1 sequencing + deletions/duplications
Rett Syndrome (MECP2 gene only) – full sequencing + deletions/duplications
Rett/Angelman Syndromes NGS Panel
Scott Syndrome
Short-Chain Acyl-CoA Dehydrogenase Deficiency – ACADS sequencing
Short Stature – SHOX variant screening + deletions/duplications
Silver-Russell Syndrome – methylation studies on 11p15 imprinting domains KvDMR + H19
Sitosterolemia & Thrombocytopenia
Skeletal Dysplasia NGS Panel
Smith-Lemli-Opitz Syndrome – DHCR7 sequencing
Smith-Magenis Syndrome – BOBs (5 days) + karyotype (15 days)
Smith-Magenis Syndrome – BoBs only
Sotos Syndrome (Cerebral Gigantism) – NSD1 sequencing + deletions/duplications
Spastic Paraplegia NGS Panel
Spinal Bulbar Muscular Atrophy (Kennedy Disease) – AR repeat analysis
Spinal Muscular Atrophy – SMN1 deletions/duplications
Spinocerebellar Ataxia – multiplex SCA1+2+3+6+7+17 common repeat expansions
Spinocerebellar Ataxia NGS Panel
SRY (Sex-determining Region Y)
Stormorken Syndrome
Systemic mastocystosis – C-Kit common variants (KIT D816V)
T cell clonality assay (TCR beta and TCR gamma)
Takenouchi-Kosaki Syndrome
Tay Sachs Screen
Thrombophilia due to Activated Protein C Resistance
Thrombophilia due to Antithrombin III Deficiency
Thrombophilia due to Heparin Cofactor II Deficiency
Thrombophilia due to Histidine-rich Glycoprotein (HRG) Deficiency
Thrombophilia due to Protein C Deficiency
Thrombophilia due to Protein S Deficiency
Thrombophilia due to Thrombomodulin Defect
Thrombosis Gene Panel
Thrombotic Risk Profile
Thrombotic Thrombocytopenic Purpura, Hereditary
Thyroid Cancer NGS Panel
Treacher Collins Syndrome and Related Disorders NGS Panel
Tuberous Sclerosis (TSC1 + TSC2)
Urinary Tract/Renal Cancer NGS Panel
Usher Syndrome NGS Panel
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency – ACADVL sequencing
Von Hippel-Lindau Syndrome – VHL sequencing + deletions/duplications
Von Willebrands Disease
Wiskott-Aldrich Syndrome
Wolf-Hirschhorn Syndrome – BOBs (5 days) + karyotype (15 days)
Wolf-Hirschhorn Syndrome – BOBs only
Y chromosome microdeletions – AZFa + AZFb + AZFc + SRY
Zellweger Syndrome NGS Panel
Zygosity testing – comparative DNA profile