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 + FISH
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 – full gene sequencing
Aicardi-Goutières Syndrome NGS Panel – full gene sequencing
Alagille Syndrome NGS Panel – full sequencing JAG1 + NOTCH2 genes
Alpha Fetoprotein on Amniotic fluid
Alpha Thalassaemia – multiplex PCR for common large deletions
Alpha-1-Antitrypsin Genotype – PIM, PIS, PI*Z
Alport Syndrome NGS Panel – full sequencing with deletions and duplications
AML/ALL Molecular MRD – NPM1, PML-RARA, CBFB-MYH11, RUNX1-RUNX1T1, ETV6-RUNX1
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 – full gene sequencing
Androgen Insensitivity – AR gene sequencing
Aneurysm/Connective Tissue Disorders/Ehlers-Danlos Syndrome NGS Panel – full gene sequencing + deletions/duplications
Angelman Syndrome (Primary Screen) – methylation PCR
Angelman/Rett Syndromes NGS Panel – full gene sequencing
Aniridia, Isolated – PAX6 gene sequencing + deletions/duplications
Anophthalmia/Microphthalmia/Coloboma NGS Panel – full gene sequencing
Antithrombin Deficiency – SERPINC1 Gene Variant Analysis (Known Genotype)
Antithrombin Deficiency – SERPINC1 Gene Variant Analysis (Unknown Genotype)
Aortopathy/Marfan Syndrome and Thoracic Aortic and Dissection NGS Panel – full gene sequencing
Apert Syndrome – common FGFR2 variants
Apolipoprotein E genotype – E2, E3, E4
Array CGH (Comparative Genomic Hybridisation)
Ashkenazi Breast Cancer Screen – common variants
Ashkenazi Jewish Carrier Screen
Ataxia NGS Panel – full gene sequencing
Autoinflammation/Periodic Fever NGS Panel – full gene sequencing
Azoospermia – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions
B cell clonality assay (IgH and IgK)
Bardet-Biedl Syndrome NGS Panel – full gene sequencing
Batten Disease (Neuronal Ceroid Lipofuscinosis) NGS Panel – full gene sequencing
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
Beta Thalassaemia – beta-globin gene sequencing
Bleeding and Platelet Gene Panel
Blood PCR for Chromosome 13, 18, 21 and sex chromosomes
Breast Cancer Ashkenazi Screen – common variants
Breast Cancer – BRCA1 + BRCA2 only gene sequencing + deletions/duplications
Breast Cancer NGS Panel – full gene sequencing
Brugada Syndrome/Long-QT NGS Panel – full gene sequencing
C-KIT D816V variant by PCR for Mastocytosis
CADASIL – NOTCH3 gene sequencing
CAKUT (Congenital Anomalies of Kidney & Urinary Tract) NGS Panel – full gene sequencing
Cancer, Comprehensive NGS Panel – full gene sequencing + deletions/duplications
Cardio-Facio-Cutaneous/Noonan/LEOPARD/Costello Syndromes NGS Panel – full gene sequencing
Cardiomyopathy, Dilated NGS Panel – full gene sequencing + deletions/duplications
Cardiomyopathy, Hypertrophic NGS Panel – full gene sequencing + deletions/duplications
Cardiovascular, Comprehensive NGS Panel – full gene sequencing + deletions/duplications
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 – full gene sequencing
Charcot-Marie-Tooth Type 1A – PMP22 duplications
CHARGE Syndrome – CHD7 gene sequencing
Chediak-Higashi Syndrome – LYST gene sequencing
Cholestasis NGS Panel – full sequencing
Cholestasis, Intrahepatic NGS Panel – full gene sequencing
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 Analysis (Stem Cells) - Rapid BOBs aneuploidy DNA analysis for all chromosomes (5 days)
Chromosome Y Deletion – AZFa, AZFb, AZFc + SRY
Coeliac Disease – HLA DQ2/DQ8 Genotype
Colorectal Cancer NGS Panel – full gene sequencing + deletions/duplications
Comparative Genomic Hybridisation (Array CGH)
Comprehensive Neuropathy NGS Panel – full gene sequencing
Congenital Absence of Vas Deferens – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions
Congenital Myopathy NGS Panel – full gene sequencing
Connective Tissue Disorders/Ehlers-Danlos Syndrome/Aneurysm NGS Panel – full gene sequencing + deletions/duplications
Cornelia de Lange Syndrome NGS Panel – full gene sequencing
Costello/Noonan/LEOPARD/Cardio-Facio-Cutaneous Syndromes NGS Panel – full gene sequencing
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 (CYP2C19) genotyping
Deafness NGS Panel – full gene sequencing
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 – full gene sequencing + deletions/duplications
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
Ehlers-Danlos Syndrome/Aneurysm/Connective Tissue Disorders NGS Panel – full gene sequencing + deletions/duplications
Endometrial Cancer NGS Panel – full gene sequencing + deletions/duplications
Epidermolysis Bullosa NGS Panel – full sequencing
Epilepsy, Adolescent/Adult Onset Panel – sequencing + deletions/duplications
Epilepsy, Comprehensive NGS Panel – full sequencing + deletions/duplications
Fabry Disease, X-linked – GLA gene sequencing
Facioscapulohumeral Muscular Dystropy (FSHD) – D4Z4 repeat deletion
Factor II Prothrombin – G20210A Variant
Factor V Leiden – G1691A Variant
Factor VII Deficiency – F7 Gene Variant Analysis (Known Genotype)
Factor VII Deficiency – F7 Gene Variant Analysis (Unknown Genotype)
Factor X Deficiency – F10 Gene Variant Analysis (Known Genotype)
Factor X Deficiency – F10 Gene Variant Analysis (Unknown Genotype)
Factor XI Deficiency – F11 Gene Variant Analysis (Known Genotype)
Factor XI Deficiency – F11 Gene Variant Analysis (Unknown Genotype)
Familial Adenomatous Polyposis (FAP) – full gene sequencing + deletions/duplications
Familial Exudative Vitreoretinopathy (FEVR) NGS Panel – full gene sequencing
Familial Hypercholesterolaemia NGS panel
Familial Hypocalciuric Hypercalcaemia (FHH) Panel – full sequencing CASR + AP2S1 + GNA11 genes
Familial Medullary Thyroid Carcinoma – hotspot sequencing RET gene
Fatty Acid Oxidation Deficiency NGS Panel – full gene sequencing
FLT3-ITD and FLT3-TKD screening assay
Fragile X Syndrome screen – FMR1 repeat analysis PCR
Friedreich Ataxia – frataxin gene repeat analysis
Gaucher Disease full gene sequencing
Genetic Reproductive Profile (Male)
Gilbert Syndrome – common UGT1A1 repeat variation
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – full G6PD gene sequencing
Glycogen storage disease type 2 (Pompe) variant analysis
Haemochromatosis – HFE common variants C282Y + H63D
Haemophilia A CVS Variant Analysis (Known Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of known variants for F8 gene
Haemophilia A Variant Analysis (Known Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of known variants for F8 gene
Haemophilia A Variant Analysis (Unknown Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of unknown variants for F8 gene
Haemophilia B CVS Variant Analysis (Known Genotype) – Sequence analysis of known variants for F9
Haemophilia B Variant Analysis (Known Genotype) – Sequence analysis of known variants for F9
Haemophilia B Variant Analysis (Unknown Genotype) – Sequence analysis of unknown variants for F9
Hearing Loss NGS Panel – full gene sequencing
Hereditary Cancer NGS Panel, Comprehensive – full gene sequencing + deletions/duplications
Hereditary Colon Cancer (Lynch Syndrome) NGS Panel – full gene sequencing + deletions/duplications
Hereditary Neuropathy with Liability to Pressure Palsy – PMP22 deletion analysis
Hereditary Spastic Paraplegia Comprehensive NGS Panel – full gene sequencing + deletions/duplications
HFE gene (Haemochromatosis) – common variants C282Y + H63D
Hirschprung Disease NGS Panel – full sequencing with deletions and duplications
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 – full gene sequencing
Hyperparathyroidism – CASR sequencing
Identity Profile (DNA) – 15 STR markers
IDH1/2 screening assay
IgVH variant analysis for CLL
Intellectual Disability NGS Panel – full gene sequencing + deletions/duplications
Iron Overload Profile
Joubert/Meckel-Gruber Syndrome NGS Panel – full gene sequencing
Kallmann Syndrome NGS Panel – full gene sequencing
Kennedy Disease (Spinal Bulbar Muscular Atrophy) – AR repeat expansion
Kidney/Urinary Tract Comprehensive Cancer NGS Panel – full gene sequencing + deletions/duplications
Krabbe Disease – GALC sequencing + 502T/del common deletion
Lactose Intolerance Gene
Langer-Giedion Syndrome – BOBs (5 days) + karyotype (15 days)
Langer-Giedion Syndrome – BOBs only
Leber’s Congenital Amaurosis NGS Panel – full gene sequencing
Leber’s Hereditary Optic Neuropathy – m.3460G>A + m.11778G>A + m.14484T>C common variants
Leigh and Leigh Like Syndrome NGS Panel – full gene sequencing + deletions/duplications
LEOPARD/Noonan/Cardio-Facio-Cutaneous/Costello Syndromes NGS Panel – full gene sequencing
Leukaemia (Rapid Acute) DNA and RNA NGS Panel NEW
Leukaemia Fusion Gene Screening Assay (Q30)
Leukaemia/Lymphoma RNA Sequencing (Fusion Gene and SNV/Indel) Panel NEW
Li-Fraumeni Syndrome (p53-related cancer predisposition) – TP53 sequencing + MLPA
Limb-Girdle Muscular Dystrophy (LGMD) NGS Panel – full gene sequencing
Lissencephaly NGS Panel – full gene sequencing
Loeys-Dietz Syndrome/Marfan Syndrome/Aortic Aneurysm and Dissection NGS Panel – full gene sequencing
Long-QT Syndrome/Brugada Syndrome – full gene sequencing
Lowe (Oculocerebrorenal) Syndrome – OCRL sequencing
Lung Disorders NGS Panel – full gene sequencing
Lynch Syndrome (HNPCC) NGS Panel – full gene sequencing + deletions/duplications
Lysosomal Storage Disorders NGS Panel – full gene sequencing NEW
Male Genetic Reproductive Profile
Marfan Syndrome – FBN1 sequencing + deletions/duplications
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel – full gene sequencing
Maturity-Onset Diabetes of the Young (MODY) Diabetes
Meckel-Gruber/Joubert Syndrome NGS Panel – full gene sequencing
Medium-Chain Acyl-CoA Dehydrogenase Deficiency – ACADM sequencing
Melanoma Comprehensive Cancer NGS Panel – full gene sequencing + deletions/duplications
Microdeletion (common) Syndromes – BOBs only
Microphthalmia/Anophthalmia/Coloboma NGS Panel – full gene sequencing
Miller-Dieker Syndrome – BOBs (5 days) + karyotype (15 days)
Miller-Dieker Syndrome – BOBs only
Mitochondrial genome – full mitochondrial DNA sequencing + deletions
Mitochondrial genome sequencing
Motor Neurone Disease (Amylotrophic Lateral Sclerosis) NGS Panel – full gene sequencing
MTHFR – common C677T + A1298C variants
Mucopolysaccharidosis NGS Panel – full gene sequencing
Multiple Endocrine Neoplasia Type 1 – full MEN1 sequencing
Multiple Endocrine Neoplasia Type 2 – RET gene hotspot sequencing
Myeloid Gene Panel NEW
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 – full gene sequencing
Nervous System/Brain Cancer NGS Panel – full gene sequencing + deletions/duplications
Neurofibromatosis Type 1 – NF1 + SPRED1 sequencing + deletions/duplications
Neurofibromatosis Type 2 (Bilateral Acoustic) – NF2 sequencing + deletions/duplications
Neuronal Ceroid Lipofuscinosis (Batten Disease) NGS Panel – full gene sequencing
Non-Invasive Prenatal Testing – common aneuploidy screening from maternal blood
Noonan Syndrome Prenatal Screening – PTPN11 exons 3 & 8 only
Noonan/LEOPARD/Cardio-Facio-Cutaneous/Costello Syndromes NGS Panel – full gene sequencing
Nystagmus, X-linked Infantile – FRMD7 gene sequencing
Oculopharyngeal Muscular Dystrophy – PABPN1 repeat analysis
Optic Atrophy NGS Panel – full sequencing OPA1 + OPA3 genes
Osteogenesis Imperfecta NGS Panel – full gene sequencing
Ovarian Cancer NGS Panel – full gene sequencing + deletions/duplications
p53-related cancer predisposition (Li-Fraumeni Syndrome) – TP53 sequencing + MLPA
Pancreatic Cancer NGS Panel – full gene sequencing + deletions/duplications
Paraganglioma/Pheochromocytoma NGS Panel – full gene sequencing + deletions/duplications
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 – full gene sequencing
Peutz-Jegher Syndrome – STK11 sequencing + deletions/duplications
Phelan-McDermid Syndrome – karyotype + FISH
Pheochromocytoma/Paraganglioma NGS Panel – full gene sequencing + deletions/duplications
POLG-Related Disorders – full POLG sequencing + deletions and duplications
Polycystic Kidney/NGS Panel – full gene sequencing
Pontocerebellar Hypoplasia NGS Panel – full gene sequencing
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 – full gene sequencing
Primary Hyperoxaluria Panel – full gene sequencing + CNV
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 – full sequencing + deletions/duplications
Protein C Deficiency – PROC Gene Variant Analysis (Known Genotype)
Protein C Deficiency – PROC Gene Variant Analysis (Unknown Genotype)
PTEN-related disorders (including Bannayan-Riley-Ruvalcaba, Cowden & Proteus Syndromes) – sequencing + deletions/duplications
QF-PCR rapid common aneuploidy screen
Recurrent Miscarriage Profile (female)
Renal Cysts and Diabetes (RCAD) – HNF-1β sequencing + deletions/duplications
Renal/Urinary Tract Cancer NGS Panel – full gene sequencing + deletions/duplications
Retinal Disorders NGS Panel – full gene sequencing
Retinoblastoma – RB1 sequencing + deletions/duplications
Rett Syndrome (MECP2 gene only) – full sequencing + deletions/duplications
Rett/Angelman Syndromes NGS Panel – full gene sequencing
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
Skeletal Dysplasia NGS Panel – full gene sequencing
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 – full gene sequencing + deletions/duplications + mitochondrial DNA
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 – full gene sequencing
SRY (Sex-determining Region Y)
Systemic mastocystosis – C-Kit common variants (KIT D816V)
T cell clonality assay (TCR beta and TCR gamma)
Tay Sachs Screen – common variants
Thrombosis Gene Panel
Thrombotic Risk Profile
Thyroid Cancer NGS Panel – full gene sequencing + deletions/duplications
Torsion Dystonia (DYT1) – TOR1A common variant c.904-906delGAG
Treacher-Collins Syndrome NGS Panel – full sequencing POLR1C + POLR1D + TCOF1
Tuberous Sclerosis – full TSC1 + TSC2 gene sequencing
Urinary Tract/Renal Cancer NGS Panel – full gene sequencing + deletions/duplications
Usher Syndrome NGS Panel – full gene sequencing
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency – ACADVL sequencing
Von Hippel-Lindau Syndrome – VHL sequencing + deletions/duplications
Von Willebrands Disease – Type 2 (Ex28) Variant Analysis (VWF) (Known Genotype)
Von Willebrands Disease – Type 2 (Ex28) Variant Analysis (VWF) (Unknown Genotype)
Von Willebrands Disease – Type 2 VWD Variant Analysis (VWF) (Known Genotype)
Von Willebrands Disease – Type 2 VWD Variant Analysis (VWF) (Unknown Genotype)
Von Willebrands Disease – Type 2N Variant Analysis (VWF) (Known Genotype)
Von Willebrands Disease – Type 2N Variant Analysis (VWF) (Unknown Genotype)
Wolf-Hirschhorn Syndrome – BOBs (5 days) + karyotype (15 days)
Wolf-Hirschhorn Syndrome – BOBs only
Y chromosome microdeletions – AZFa + AZFb + AZFc + SRY
Zellweger Syndrome/Peroxisomal Disorders NGS Panel – full gene sequencing
Ziwig Endotest® NEW
Zygosity testing – comparative DNA profile