
Private Genetic Counselling & Genetic Testing in London
Whether you have a known genetic condition in your family, wish to clarify your hereditary cancer risk, are planning a family, or need answers for unexplained symptoms, Northway Clinic provides expert, consultant-led genomic medicine.
Our clinical genetics service is led directly by our Consultant Genetic Counsellor, ensuring you receive specialised guidance, pre-test clinical evaluation, and post-test interpretation. We perform testing in partnership with leading UKAS ISO 15189- and CAP/CLIA-accredited laboratories in the UK and USA.
Why Consultant-Led Genetic Care Matters
Navigating genetic and genomic testing requires clinical expertise. At Northway Clinic, a dedicated Consultant Genetic Counsellor provides genetic counselling, not general practitioners.
- Clinical Pedigree & Risk Assessment: We analyse your personal and multi-generational family history to identify exact inheritance patterns.
- Targeted Test Selection: We avoid non-essential testing by pinpointing the appropriate genomic tier—from single-gene analysis to Whole Genome Sequencing.
- Informed Consent & Paperwork: Your counsellor guides you through complex variant possibilities (including Variants of Uncertain Significance, or VUS) and manages diagnostic consent protocols.
- Clinical Actionability: Once your results return, your counsellor translates complex laboratory reports into clear, actionable health plans and coordinates onward specialist referrals if required.
Core Genetic Services:
Genetic Counselling
Dedicated 60-minute consultations with our Consultant Genetic Counsellor. Explore familial health risks, evaluate testing suitability before or during pregnancy, and understand what genomic findings mean for you and your relatives.
- Starting Price: £230 (Initial 1-hour consultation)
Whole Genome & Whole Exome Sequencing
Our most advanced genomic diagnostic evaluations for rare, complex, or undiagnosed medical conditions.
- Whole Exome Sequencing (WES): Sequences ~20,000 coding genes to detect causative pathogenic mutations. Available as Singleton, Duo, or Trio (patient + biological parents) and includes familial VUS testing and complementary RNA sequencing (RISE).
- Whole Genome Sequencing (WGS / FulGenome): Reads entire coding and non-coding genomic regions to identify complex structural variants, deep intronic variants, and repeat expansions.
- Starting Price: Exome from £2,000 | Genome from £3,000
Karyotype & Chromosome Testing
High-resolution cytogenetic analyses to detect constitutional chromosomal rearrangements, translocations, inversions, and aneuploidies.
- Blood Karyotyping: Metaphase cytogenetic analysis for fertility investigations, recurrent miscarriage, and developmental disorders.
- Rapid Chromosome QF-PCR: Rapid 5-day assessment for aneuploidies in chromosomes 13, 18, 21, and sex chromosomes.
- Postnatal Microarray (Array CGH): Genome-wide SNP array to detect submicroscopic microdeletions, microduplications, and loss of heterozygosity (LOH).
Cancer Genetic Testing (Hereditary & Somatic Oncology)
Identify inherited cancer predisposition genes or assess personal oncology risks to inform screening and preventative management.
- BRCA1 & BRCA2 Testing: Focused sequencing and deletion/duplication testing for hereditary breast and ovarian cancer.
- Comprehensive Cancer Panels: Targeted multi-gene panels for Lynch syndrome, colorectal cancer, prostate cancer, endocrine tumours, and pan-cancer risk panels.
- Advanced Risk Assessment: Stockholm3 blood test combining genetic markers, protein biomarkers, and clinical data for prostate cancer risk stratification.
Carrier Screening (Preconception & Prenatal)
Proactive genetic carrier screening for individuals and couples planning a family or preparing for assisted reproduction (IVF).
- Beacon Carrier Panels: Identifies whether you carry recessive genetic variants for conditions such as Cystic Fibrosis, Spinal Muscular Atrophy (SMA), Fragile X syndrome, and inborn errors of metabolism.
- Flexible Panel Depths: Options ranging from Core ACOG/ACMG panels to expanded screens testing over 1,000 genes.
- Prenatal Diagnosis: Including rapid screening for chromosomal conditions such as Down’s syndrome, Edwards’ syndrome, and Patau’s syndrome. More information about NIPT (Non-Invasive Prenatal Test) can be found HERE
Disease-Targeted NGS Panels, Single-Gene & Known Mutation Tests
Specialist genomic panels and single-gene analyses for targeted diagnoses across 12 medical fields.
- Cardiovascular: Cardiomyopathies (HCM, DCM, ARVC), channelopathies (Long QT, Brugada), and thoracic aortic aneurysms.
- Neurology & Neuromuscular: Adult-onset ataxias, muscular dystrophies, Charcot-Marie-Tooth, early-onset dementia, and epilepsy panels.
- Connective Tissue & Rheumatology: Ehlers-Danlos syndromes (EDS), Marfan syndrome, and Loeys-Dietz syndrome.
- Reproductive Health & Miscarriage: Comprehensive Recurrent Miscarriage Profiles, male factor azoospermia screens, and the saliva-based Ziwig Endotest® for non-invasive endometriosis diagnosis.
- Pharmacogenetics (PGx): Liver enzyme metaboliser profiles (CYP2D6, CYP2C19, DPYD) to guide drug prescribing and prevent adverse toxicity.
- Targeted Tests: Sanger sequencing for known familial mutations or single-gene indications.
- Starting Price: Known Mutation from £450 | Single Gene / PGx from £600–£650 | Rare Disease NGS Panels £1,190
Summary Pricing Guide
Our clinical pricing is completely transparent. We itemise genetic counselling and testing fees separately, so you always retain full control over your care pathway. A full price list with common genetic tests and panels can be found at the bottom of the page.
| Service Category | Configuration / Clinical Scope | Starting Price |
| Genetic Counselling | Initial Consultation (1 Hour, online) | £230 |
| Genetic Counselling | Follow-Up Consultation (30 Minutes) | £150 |
| Genetic Counselling | Consenting, paperwork & sample taking | £90 |
| Whole Exome Sequencing (WES) | Singleton / Duo / Trio (~20,000 genes, includes RNA-seq) | From £2,000 |
| Whole Genome Sequencing (WGS) | Complete coding & non-coding genome analysis | From £3,000 |
| Single Gene Sequencing | Single-gene indications | £650 |
| Karyotyping & Cytogenetics | Rapid QF-PCR (£330) / Blood Karyotype (£425) / SNP Array (£1,050) | From £330 |
| BRCA & Hereditary Cancer | BRCA1/2 Focus Panel (£650) / Organ-Specific Panels (£650) | From £650 |
| Prostate Cancer Risk | Stockholm3 Genetic & Biomarker Blood Test | £395 |
| Carrier Screening | Beacon Preconception Panels | From £590 |
| Targeted Disease NGS Panels | Cardiology, Neurology, Connective Tissue, Paediatrics and others | £1,190 |
| Pharmacogenetics (PGx) | Actionable metabolic panels | From £600 |
| Targeted Variant Testing | Known familial mutation verification | £450 |
| Endometriosis Diagnostic | Ziwig Endotest® (Salivary microRNA NGS) | £1,000 |
Meet Our Consultant Genetic Counsellor

Sara Levene MSc, Registered Genetic Counsellor
Sara brings more than 25 years of specialised clinical genetics experience across both the NHS and private healthcare sectors. She has held senior clinical leadership roles, including leading the Preimplantation Genetic Testing (PGT) service at a foremost UK fertility centre, developing national carrier screening programmes, and serving as Chair of the Association of Genetic Nurses and Counsellors (AGNC).
Sara works closely with patients to break down complex genomic test results into straightforward, actionable insights, providing an empathetic environment to make informed health decisions.
How Our Genetic Testing Pathway Works

BOOK YOUR APPOINTMENT ONLINE
Frequently Asked Questions
Do I need a referral from my GP?
No. You do not require a GP referral to access genetic counselling or testing at Northway Clinic. You can self-refer and book your initial consultation directly through our clinic.
Is genetic testing mandatory if I book an appointment?
No. Your initial consultation gives you an opportunity to review your family history, discuss potential risks, and ask questions. There is no requirement or pressure to proceed with testing unless you feel it is right for you.
Who takes my sample and handles the clinical paperwork?
Following your counselling consultation, our genetic counsellor and clinical team manage all necessary consent documentation and test paperwork and collect blood (most common) or saliva samples at our London clinics.
How long do genetic test results take?
Turnaround times depend on the assay’s complexity. Rapid QF-PCR chromosome results take approximately 5 working days, while targeted NGS panels and carrier screens typically take 2 to 3 weeks. Broad Whole Exome or Genome sequencing requires approximately 3 to 4 weeks. Your counsellor will confirm the exact timeline during your consultation.
Common Genetic & DNA Tests and Prices (Excluding Consultation)
1. Whole Genome & Exome Sequencing
| Test Name & Scope | Price |
|---|---|
| FulGenome Whole Genome Sequencing (WGS) – Singleton | £3,000 |
| FulGenome Whole Genome Sequencing (WGS) – Duo | £4,000 |
| FulGenome Whole Genome Sequencing (WGS) – Trio | £4,500 |
| Whole Exome Sequencing (WES) – Singleton (~20,000 genes) | £2,000 |
| Whole Exome Sequencing (WES) – Duo | £3,000 |
| Whole Exome Sequencing (WES) – Trio | £3,500 |
| Clinical Exome Sequencing – Singleton (~6,000 OMIM genes) | £2,000 |
| Clinical Exome Sequencing – Duo | £3,000 |
| Clinical Exome Sequencing – Trio | £3,500 |
| Mitochondrial Genome Sequencing (Full mtDNA) | £1,300 |
| Custom NGS Panel (Bespoke Clinician Selection from 18,000+ genes) | £1,190 |
| Known Mutation Test (Targeted Variant Sanger / qPCR / NGS) | £450 |
| Medically Actionable Gene Panel (ACMG Secondary Findings) | £650 |
| Ataxia Repeat Expansion Analysis (15 Genes rpPCR) | £1,899 |
2. Hereditary Cancer NGS Panels
| Panel Name | Price |
|---|---|
| BRCA1 and BRCA2 Focus Panel | £650 |
| Breast Cancer Comprehensive Panel | £650 |
| Breast and Ovarian Cancer Comprehensive Panel | £650 |
| Colorectal Cancer Comprehensive Panel | £650 |
| Endometrial and Uterine Cancer Comprehensive Panel | £650 |
| Gastric Cancer Comprehensive Panel | £650 |
| Hematologic Malignancy / Hereditary Leukaemia Panel | £650 |
| Hereditary Melanoma Comprehensive Panel | £650 |
| Lynch Syndrome Focus Panel | £650 |
| Multiple Endocrine Neoplasia (MEN) Panel | £650 |
| Nervous System / Brain Tumour Susceptibility Panel | £650 |
| Ovarian Cancer Comprehensive Panel | £650 |
| Pan-Cancer Comprehensive Panel (Full Focus Cancer Panel) | £1,000 |
| Pancreatic Cancer Comprehensive Panel | £650 |
| Paediatric Cancer Susceptibility Comprehensive Panel | £650 |
| Pheochromocytoma and Paraganglioma Panel | £650 |
| Prostate Cancer Comprehensive Panel | £650 |
| Renal Cell / Kidney Cancer Comprehensive Panel | £650 |
| Thyroid Cancer Comprehensive Panel | £650 |
3. Rare Disease Panels: Ophthalmology & Retinal Disorders (£1,190 Each)
| Panel Name | Price |
|---|---|
| Achromatopsia NGS Panel (CNGA3, CNGB3, GNAT2, PDE6C) | £1,190 |
| Albinism NGS Panel | £1,190 |
| Aniridia and Anterior Segment Dysgenesis NGS Panel | £1,190 |
| Axenfeld-Rieger Spectrum NGS Panel | £1,190 |
| Bardet-Biedl Syndrome NGS Panel | £1,190 |
| Bietti Crystalline Dystrophy NGS Panel | £1,190 |
| Choroideremia & Retinal Degeneration NGS Panel | £1,190 |
| Cone-Rod Dystrophy NGS Panel | £1,190 |
| Congenital Cataracts NGS Panel | £1,190 |
| Congenital Stationary Night Blindness NGS Panel | £1,190 |
| Corneal Dystrophy NGS Panel | £1,190 |
| Comprehensive Eye Disorders NGS Panel (500+ genes) | £1,190 |
| Comprehensive Glaucoma NGS Panel (Juvenile, Open-Angle, Congenital) | £1,190 |
| Comprehensive Retinal Dystrophy & Retinopathy NGS Panel | £1,190 |
| Early-Onset Glaucoma NGS Panel | £1,190 |
| Familial Exudative Vitreoretinopathy (FEVR) NGS Panel | £1,190 |
| Leber Congenital Amaurosis (LCA) NGS Panel | £1,190 |
| Microphthalmia, Anophthalmia, and Coloboma (MAC) NGS Panel | £1,190 |
| Optic Atrophy and Optic Neuropathy NGS Panel | £1,190 |
| Retinitis Pigmentosa (RP) NGS Panel | £1,190 |
| Stargardt Disease and Macular Dystrophy NGS Panel | £1,190 |
4. Rare Disease Panels: Otolaryngology & Audiology (£1,190 Each)
| Panel Name | Price |
|---|---|
| Branchio-Oto-Renal (BOR) Spectrum Disorders NGS Panel | £1,190 |
| Comprehensive Hearing Loss NGS Panel (180+ genes) | £1,190 |
| Non-Syndromic Sensorineural Hearing Loss NGS Panel | £1,190 |
| Pendred Syndrome NGS Panel | £1,190 |
| Syndromic Hearing Loss NGS Panel | £1,190 |
| Usher Syndrome NGS Panel (Types I, II, and III) | £1,190 |
5. Rare Disease Panels: Cardiovascular Disease & Arrhythmia (£1,190 Each)
| Panel Name | Price |
|---|---|
| Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) NGS Panel | £1,190 |
| Atrial Fibrillation NGS Panel | £1,190 |
| Brugada Syndrome NGS Panel | £1,190 |
| Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) NGS Panel | £1,190 |
| Comprehensive Arrhythmia NGS Panel | £1,190 |
| Comprehensive Cardiomyopathy NGS Panel | £1,190 |
| Comprehensive Cardiovascular NGS Panel (360+ genes) | £1,190 |
| Comprehensive Dyslipidemia & Hypertriglyceridemia NGS Panel | £1,190 |
| Congenital Heart Defects & Disease (CHD) NGS Panel | £1,190 |
| Dilated Cardiomyopathy (DCM) NGS Panel | £1,190 |
| Familial Hypercholesterolemia NGS Panel | £1,190 |
| Familial Hypertrophic Cardiomyopathy (HCM) NGS Panel | £1,190 |
| Heterotaxy and Situs Inversus NGS Panel | £1,190 |
| Left Ventricular Non-Compaction (LVNC) NGS Panel | £1,190 |
| Long QT Syndrome (LQTS) NGS Panel | £1,190 |
| Restrictive Cardiomyopathy NGS Panel | £1,190 |
| Short QT Syndrome (SQTS) NGS Panel | £1,190 |
| Thoracic Aortic Aneurysm and Dissection (TAAD) NGS Panel | £1,190 |
6. Rare Disease Panels: Neurology, Neuromuscular & Movement (£1,190 Each)
| Panel Name | Price |
|---|---|
| Adolescent / Adult Epilepsy NGS Panel | £1,190 |
| Alzheimer and Dementia NGS Panel | £1,190 |
| Amyotrophic Lateral Sclerosis (ALS) / Motor Neuron Disease NGS Panel | £1,190 |
| Arthrogryposis Multiplex Congenita NGS Panel | £1,190 |
| Ataxia NGS Panel (Multi-gene sequencing) | £1,190 |
| Ataxia with Oculomotor Apraxia NGS Panel | £1,190 |
| Autism Spectrum Disorder NGS Panel | £1,190 |
| Basal Ganglia Calcification NGS Panel | £1,190 |
| Brain-Iron Accumulation (NBIA) NGS Panel | £1,190 |
| Central Hypoventilation Syndrome NGS Panel | £1,190 |
| Cerebellar Hypoplasia NGS Panel | £1,190 |
| Cerebral Cavernous Malformations NGS Panel | £1,190 |
| Cerebral Cortical Malformation & Lissencephaly NGS Panel | £1,190 |
| Charcot-Marie-Tooth (CMT) Extended NGS Panel | £1,190 |
| Childhood Epilepsy NGS Panel | £1,190 |
| Comprehensive Dystonia NGS Panel | £1,190 |
| Comprehensive Epilepsy NGS Panel | £1,190 |
| Comprehensive Intellectual Disability and Autism NGS Panel (680+ genes) | £1,190 |
| Comprehensive Muscular Dystrophy NGS Panel | £1,190 |
| Congenital Myasthenic Syndrome NGS Panel | £1,190 |
| Congenital Myopathy NGS Panel | £1,190 |
| Distal Arthrogryposis Syndromes NGS Panel | £1,190 |
| Distal Hereditary Motor Neuropathy NGS Panel | £1,190 |
| Distal Hereditary Myopathy NGS Panel | £1,190 |
| Duchenne and Becker Muscular Dystrophy NGS Panel | £1,190 |
| Early Infantile Epileptic Encephalopathy (EIEE) NGS Panel | £1,190 |
| Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel | £1,190 |
| Early-Onset Ataxia NGS Panel | £1,190 |
| Emery-Dreifuss Muscular Dystrophy NGS Panel | £1,190 |
| Joubert and Meckel NGS Panel | £1,190 |
| Hereditary Spastic Paraplegia (HSP) NGS Panel | £1,190 |
| Inclusion Body Myopathy NGS Panel | £1,190 |
| Leukodystrophy and Hypomyelination NGS Panel | £1,190 |
| Limb-Girdle Muscular Dystrophy (LGMD) NGS Panel | £1,190 |
| Microcephaly NGS Panel | £1,190 |
| Neonatal Epilepsy NGS Panel | £1,190 |
| Neuronal Ceroid Lipofuscinosis (Batten Disease) NGS Panel | £1,190 |
| Parkinson Disease Comprehensive NGS Panel | £1,190 |
| Parkinson Disease Focus NGS Panel | £1,190 |
| Pontocerebellar Hypoplasia NGS Panel | £1,190 |
| Prader-Willi / Angelman Syndrome with Methylation Analysis NGS Panel | £1,190 |
| Progressive Myoclonic Epilepsy NGS Panel | £1,190 |
| Spinal Muscular Atrophy (SMA) NGS Panel | £1,190 |
7. Rare Disease Panels: Immunology & Autoinflammatory (£1,190 Each)
| Panel Name | Price |
|---|---|
| Agammaglobulinemia NGS Panel | £1,190 |
| Aicardi-Goutières Syndrome NGS Panel | £1,190 |
| Autoinflammatory and Periodic Fever Syndromes NGS Panel | £1,190 |
| B-Negative Severe Combined Immunodeficiency NGS Panel | £1,190 |
| B-Positive Severe Combined Immunodeficiency NGS Panel | £1,190 |
| Chronic Granulomatous Disease NGS Panel | £1,190 |
| Combined Immunodeficiency (CID) NGS Panel | £1,190 |
| Comprehensive Primary Immunodeficiency (PID) NGS Panel (590+ genes) | £1,190 |
| Hemophagocytic Lymphohistiocytosis (HLH) NGS Panel | £1,190 |
| Hyper-IgE Syndromes NGS Panel | £1,190 |
| Hyper-IgM Syndromes NGS Panel | £1,190 |
| Primary Antibody Deficiency (PAD) NGS Panel | £1,190 |
| Severe Combined Immunodeficiency (SCID) NGS Panel | £1,190 |
8. Rare Disease Panels: Haematology & Coagulation (£1,190 Each)
| Panel Name | Price |
|---|---|
| Afibrinogenemia & Fibrinogen Disorder NGS Panel | £1,190 |
| Alpha Thalassemia NGS Panel | £1,190 |
| Bernard-Soulier Syndrome NGS Panel | £1,190 |
| Bone Marrow Failure Syndromes NGS Panel | £1,190 |
| Chromosomal Instability Syndromes NGS Panel | £1,190 |
| Coagulation Deficiency NGS Panel | £1,190 |
| Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel | £1,190 |
| Comprehensive Thrombotic Microangiopathy NGS Panel | £1,190 |
| Congenital Dyserythropoietic Anaemia NGS Panel | £1,190 |
| Congenital Neutropenia NGS Panel | £1,190 |
| Congenital Sideroblastic Anaemia NGS Panel | £1,190 |
| Fanconi Anaemia NGS Panel | £1,190 |
| Hereditary Haemolytic Anaemia NGS Panel | £1,190 |
| Hereditary Spherocytosis NGS Panel | £1,190 |
| Hereditary Thrombocytopenia and Platelet Disorders NGS Panel | £1,190 |
9. Rare Disease Panels: Metabolism & Endocrine (£1,190 Each)
| Panel Name | Price |
|---|---|
| Carnitine Palmitoyltransferase & Translocase Deficiency NGS Panel | £1,190 |
| Cobalamin, Homocysteine, and Methionine Metabolism NGS Panel | £1,190 |
| Coenzyme Q10 Deficiency NGS Panel | £1,190 |
| Combined Pituitary Hormone Deficiency NGS Panel | £1,190 |
| Comprehensive Lysosomal Storage Disorders NGS Panel | £1,190 |
| Comprehensive Metabolism NGS Panel (790+ genes) | £1,190 |
| Congenital Adrenal Hyperplasia NGS Panel | £1,190 |
| Congenital Disorders of Glycosylation (CDG) NGS Panel | £1,190 |
| Diabetes-Obesity NGS Panel | £1,190 |
| Hyperinsulinism NGS Panel | £1,190 |
| Fatty Acid Oxidation Deficiency NGS Panel | £1,190 |
| Galactosemia NGS Panel | £1,190 |
| Glucocorticoid Deficiency NGS Panel | £1,190 |
| Glycogen Storage Disease (GSD) NGS Panel | £1,190 |
| Hypoglycemia, Ketogenesis, and Ketolysis NGS Panel | £1,190 |
| Maple Syrup Urine Disease (MSUD) NGS Panel | £1,190 |
| Mitochondrial Nuclear Gene NGS Panel | £1,190 |
| MODY Neonatal Diabetes NGS Panel | £1,190 |
| Mucopolysaccharidosis (MPS) Types I–IX NGS Panel | £1,190 |
| Niemann-Pick Disease NGS Panel | £1,190 |
| Organic Acidemias NGS Panel | £1,190 |
| Peroxisomal Biogenesis Disorders (Zellweger Spectrum) NGS Panel | £1,190 |
| Phenylketonuria / Hyperphenylalaninemia NGS Panel | £1,190 |
| Pyruvate Metabolism & Lactic Acidosis NGS Panel | £1,190 |
| Urea Cycle Disorders NGS Panel | £1,190 |
10. Rare Disease Panels: Skeletal Dysplasia & Connective Tissue (£1,190 Each)
| Panel Name | Price |
|---|---|
| Adams-Oliver Syndrome NGS Panel | £1,190 |
| Amelogenesis Imperfecta & Dental Disorders NGS Panel | £1,190 |
| Asphyxiating Thoracic Dystrophy (Jeune Syndrome) NGS Panel | £1,190 |
| Cardio-Facio-Cutaneous (CFC) Syndrome NGS Panel | £1,190 |
| Carpenter Syndrome NGS Panel | £1,190 |
| Chondrodysplasia Punctata NGS Panel | £1,190 |
| Cleft Lip and Cleft Palate NGS Panel | £1,190 |
| Coffin-Siris Syndrome NGS Panel | £1,190 |
| Comprehensive Connective Tissue Disease NGS Panel | £1,190 |
| Comprehensive Oligodontia NGS Panel | £1,190 |
| Cornelia de Lange Syndrome NGS Panel | £1,190 |
| Craniosynostosis Syndromes NGS Panel | £1,190 |
| Ehlers-Danlos Syndrome (EDS) NGS Panel (Hypermobile, Classical, Vascular, Kyphoscoliotic) | £1,190 |
| Hereditary Haemorrhagic Telangiectasia (HHT) NGS Panel | £1,190 |
| Hereditary Multiple Osteochondromas (HMO) NGS Panel | £1,190 |
| Hypophosphatasia NGS Panel | £1,190 |
| Loeys-Dietz Syndrome NGS Panel | £1,190 |
| Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel | £1,190 |
| Metaphyseal Dysplasia NGS Panel | £1,190 |
| Multiple Epiphyseal Dysplasia & Spondyloepiphyseal Dysplasia NGS Panel | £1,190 |
| Noonan and RASopathies NGS Panel | £1,190 |
| Osteogenesis Imperfecta (OI) Comprehensive NGS Panel | £1,190 |
| Osteogenesis Imperfecta (OI) Focus NGS Panel | £1,190 |
| Short Stature NGS Panel | £1,190 |
| Skeletal Dysplasia Comprehensive NGS Panel | £1,190 |
| Treacher Collins and Related Disorders NGS Panel | £1,190 |
11. Rare Disease Panels: Dermatology, Renal, Respiratory & GI (£1,190 Each)
| Panel Name | Price |
|---|---|
| Clouston Syndrome / Hidrotic Ectodermal Dysplasia NGS Panel Dermatology | £1,190 |
| Epidermolysis Bullosa (EB) NGS Panel Dermatology | £1,190 |
| Ichthyosis NGS Panel Dermatology | £1,190 |
| Naegeli-Franceschetti-Jadassohn Syndrome NGS Panel Dermatology | £1,190 |
| Neurofibromatosis NGS Panel (NF1, NF2, SPRED1) Dermatology | £1,190 |
| Tuberous Sclerosis Complex NGS Panel Dermatology | £1,190 |
| Alport Syndrome NGS Panel Nephrology | £1,190 |
| Atypical Hemolytic Uremic Syndrome (aHUS) NGS Panel Nephrology | £1,190 |
| Bartter Syndrome NGS Panel Nephrology | £1,190 |
| Ciliopathies NGS Panel Nephrology | £1,190 |
| Comprehensive Glomerular Proteinuria and Nephrotic Syndrome NGS Panel Nephrology | £1,190 |
| Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT) NGS Panel Nephrology | £1,190 |
| Primary Hyperoxaluria NGS Panel Nephrology | £1,190 |
| Nephronophthisis and Medullary Cystic Kidney Disease NGS Panel Nephrology | £1,190 |
| Steroid-Resistant Nephrotic Syndrome NGS Panel Nephrology | £1,190 |
| Polycystic Kidney Disease (PKD) NGS Panel (ADPKD & ARPKD) Nephrology | £1,190 |
| Renal Tubular Acidosis NGS Panel Nephrology | £1,190 |
| Lung Disorders NGS Panel Respiratory | £1,190 |
| Bronchiectasis NGS Panel Respiratory | £1,190 |
| Cystic Fibrosis (CFTR) Comprehensive NGS Panel Respiratory | £1,190 |
| Familial Interstitial Lung Disease / Pulmonary Fibrosis NGS Panel Respiratory | £1,190 |
| Primary Ciliary Dyskinesia (PCD) NGS Panel Respiratory | £1,190 |
| Surfactant Metabolism Dysfunction NGS Panel Respiratory | £1,190 |
| Alagille Syndrome NGS Panel Gastroenterology | £1,190 |
| Cholestasis NGS Panel Gastroenterology | £1,190 |
| Chronic Pancreatitis NGS Panel Gastroenterology | £1,190 |
| Congenital Diarrhoea & Enteropathy NGS Panel Gastroenterology | £1,190 |
| Congenital Hepatic Fibrosis NGS Panel Gastroenterology | £1,190 |
| Gastrointestinal Atresia NGS Panel Gastroenterology | £1,190 |
| Hirschsprung Disease NGS Panel Gastroenterology | £1,190 |
| Progressive Familial Intrahepatic Cholestasis (PFIC) NGS Panel Gastroenterology | £1,190 |
12. Infertility & Reproductive Genetics Panels (£650 Each)
| Panel Name | Price |
|---|---|
| Disorders of Sex Development (DSD) NGS Panel | £650 |
| Female Infertility NGS Panel | £650 |
| Female Infertility Oocyte/Zygote/Embryo Maturation Arrest (OZEMA) NGS Panel | £650 |
| Hypogonadotropic Hypogonadism (HH) & Kallmann Syndrome Panel | £650 |
| Male Infertility NGS Panel | £650 |
| Premature Ovarian Insufficiency (POI) NGS Panel | £650 |
| 46,XY Sex Reversal NGS Panel | £650 |
| Spermatogenic Failure & Azoospermia NGS Panel | £650 |
13. Carrier Screening (Beacon) & Newborn Testing
| Test Description | Price |
|---|---|
| Beacon Core Guidelines Carrier Screening Panel (ACOG/ACMG general population) | £590 |
| Beacon Focus Carrier Screening Panel (Pan-ethnic, high-frequency) | £590 |
| Beacon Ashkenazi Jewish Carrier Screening Panel | £590 |
| Beacon High Frequency Carrier Screening Panel (ACMG Tier 3 conditions) | £590 |
| Beacon Expanded Carrier Screening Panel (400+ genes) | £590 |
| Beacon Expanded + Opt-in Genes Carrier Screening Panel | £590 |
| Beacon 787-Expanded Carrier Screening Panel | £700 |
| Beacon One+ Carrier Screening Panel (1,000+ genes) | £750 |
| Custom Beacon Carrier Screening Panel | £750 |
| Newborn Genetic Analysis (Proactive multi-gene infant screening) | £590 |
14. Single Gene Sequencing Tests (£650 Each)
| Gene / Condition Analyzed | Price |
|---|---|
| Androgen Insensitivity – AR gene sequencing | £650 |
| Aniridia, Isolated – PAX6 gene sequencing | £650 |
| Beta Thalassaemia – beta-globin gene sequencing | £650 |
| CADASIL – NOTCH3 gene sequencing | £650 |
| CHARGE Syndrome – CHD7 gene sequencing | £650 |
| Fabry Disease, X-linked – GLA gene sequencing | £650 |
| Familial Mediterranean fever – MEFV gene sequencing | £650 |
| Fragile X Syndrome Screen – FMR1 repeat analysis PCR | £650 |
| Gaucher Disease – sequencing of GBA1 | £650 |
| Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – full G6PD gene sequencing | £650 |
| Hyperparathyroidism – CASR gene sequencing | £650 |
| Marfan Syndrome – FBN1 gene sequencing | £650 |
| Medium-Chain Acyl-CoA Dehydrogenase Deficiency – ACADM gene sequencing | £650 |
| Nystagmus, X-linked infantile – FRMD7 gene sequencing | £650 |
| Pelizaeus – Merzbacher Disease – PLP1 sequencing | £650 |
| Pendred Syndrome – SLC26A4 gene sequencing | £650 |
| Peutz-Jegher Syndrome – STK11 sequencing | £650 |
| POLG-related Disorders – POLG gene sequencing | £650 |
| Retinoblastoma – RB1 gene sequencing | £650 |
| Rett Syndrome – MECP2 gene sequencing | £650 |
| Short-Chain Acyl-CoA Dehydrogenase Deficiency – ACADS gene sequencing | £650 |
| Smith – Lemli – Opitz Syndrome – DHCR7 gene sequencing | £650 |
| Sotos Syndrome (Cerebral Gigantism) – NSD1 gene sequencing | £650 |
| Tay-Sachs Disease – HEXA gene sequencing | £650 |
| Very Long – Chain Acyl-CoA Dehydrogenase deficiency – ACADVL gene sequencing | £650 |
| Von Hippel-Lindau Syndrome – VHL gene sequencing | £650 |
15. Specialised Diagnostic Profiles, Cytogenetics & Triplet Repeats
| Test Description (Code) | Price |
|---|---|
| Male Genetic Reproductive Profile / Azoospermia Screen (Karyotype, CFTR, Y-deletion) (GRP) | £1,130 |
| Recurrent Miscarriage Profile – Female Comprehensive (RMP) | £1,130 |
| Postnatal SNP Array CGH (CGH) | £1,050 |
| Chromosome Analysis / Blood Karyotype (KARY) | £425 |
| Blood PCR for Chromosomes 13, 18, 21 and Sex Chromosomes (BPCR) | £330 |
| Chromosome Y Deletion – AZFa, AZFb, AZFc + SRY (YDEL) | £310 |
| Beckwith-Wiedemann Syndrome (11p15.5 Methylation) (GENE) | £720 |
| Prader-Willi Syndrome Primary Screen (15q11–q13 Methylation PCR) (GENE) | £360 |
| Angelman Syndrome Primary Screen (15q11–q13 Methylation Analysis) (GENE) | £360 |
| Spinocerebellar Ataxia Multiplex Repeat Expansions (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17) (GENE) | £650 |
| Myotonic Dystrophy Type 1 (DMPK CTG Repeat) (GENE) | £420 |
| Myotonic Dystrophy Type 2 / PROMM (CNBP CCTG Repeat) (GENE) | £420 |
| Spinal Bulbar Muscular Atrophy / Kennedy Disease (AR CAG Repeat) (GENE) | £390 |
| Friedreich Ataxia (FXN Frataxin GAA Repeat) (GENE) | £390 |
| Ziwig Endotest® Salivary microRNA Endometriosis Test (ENDT) | £1,000 |
| Stockholm3 Prostate Cancer Risk Blood Test (STK3) | £395 |
| Deep Vein Thrombosis (DVT) Pre-Travel Screen (DVT1) | £400 |
| Leukaemia/Lymphoma RNA Sequencing Panel (199+ genes) (PHFP) | £1,150 |
| Leukaemia Fusion Gene Screening Assay (Q30) (LMPX) | £750 |
| IDH1 / IDH2 Screening Assay (GENE) | £890 |
| FLT3 Mutation Screening Assay (ITD & TKD) (FLT3) | £620 |
| B-Cell Clonality Assay (IgH and IgK Gene Rearrangements) (IGHA) | £600 |
| BCR-ABL Diagnostic Assay (BCRD) | £500 |
| BCR/ABL Quantitative Monitoring (BCRQ) | £470 |
| Inherited Bleeding and Platelet Disorders Panel (R90) (R90U) | £1,400 |
| Monogenic Thrombophilia Panel (R97) (R97U) | £1,300 |
16. Pharmacogenetics & Single-Site Risk Genotyping
| Assay Description | Price |
|---|---|
| Focus PGx Panel (CYP2D6, CYP2C19, CYP2C9, VKORC1, SLCO1B1) | £600 |
| Comprehensive PGx Panel (Broad Multigenic Metabolic Profile) | £650 |
| Fluoropyrimidine Toxicity Screening (DPYD Deficiency) (5FU) | £490 |
| Gilbert Syndrome Genotype (UGT1A1 promoter (TA)n repeat / *28 allele) (GENE) | £390 |
| Alpha-1-Antitrypsin Genotype (PI*M, PI*S, PI*Z) (GENE) | £300 |
| Apolipoprotein E Genotype (ApoE E2/E3/E4 for Lecanemab Eligibility & CVD) (APEG) | £300 |
| Clopidogrel Resistance Genetic Test (CYP2C19 Genotyping) (2C19) | £300 |
| Factor V Leiden Variant (G1691A) (FX5) | £300 |
| Factor II Prothrombin Variant (G20210A) (FX2) | £300 |
| MTHFR Common Variants (C677T + A1298C) (MTHF) | £300 |
| Haemochromatosis HFE Common Variants (C282Y + H63D) (HMD) | £290 |
| Lactose Intolerance Genetic Test (MCM6 Variants) (LACG) | £210 |
17. HLA Tissue Typing & DNA Services
| Assay Description | Price |
|---|---|
| HLA Class I & II Complete (A/B/C/DRB1/3/4/5/DQB1) (HLFC) | £950 |
| HLA Class I (A+B+C) (HABC) | £750 |
| HLA Class II (DRB1/3/4/5/DQB1) (HLDQ) | £500 |
| HLA Tissue Typing A+B (HLBA) | £500 |
| HLA Tissue Typing B*57:01 (Abacavir Hypersensitivity Screening) (HL57) | £400 |
| HLA Tissue Typing Narcolepsy (DQB1*06:02) (GENE) | £420 |
| HLA Tissue Typing Coeliac Disease (DQ2/DQ8) (Q2Q8) | £290 |
| HLA Tissue Typing B*27 Only (Ankylosing Spondylitis Risk) (HLAB) | £290 |
| HLA Tissue Typing B*51 (Behçet’s Disease Susceptibility) (B51) | £300 |
| HLA Tissue Typing A (Single Locus) (HLA) | £300 |
| HLA Tissue Typing B (Single Locus) (HLB) | £300 |
| HLA Tissue Typing C (Single Locus) (HLC) | £300 |
| HLA Tissue Typing DRB1/3/4/5 (Single Locus) (DRB1) | £300 |
| DNA Extraction & Storage (3 Years Purified DNA Banking) (XDNA) | £300 |
Book Appointment
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