Clinical and Genomics Laboratory Royal Brompton Hospital Sydney Street London SW3 6NP Tel: 020 7352 8121 ext. 3009

Clinical Genetics Test Price List (Non-NHS) Panel Cost (£) Aortopathy and panels Alport syndrome, X-linked 750.00 Cutis laxa 950.00 Ehlers-Danlos syndrome (EDS) 1,050.00 Familial thoracic aortic (FTAA) 1,050.00 Loeys-Dietz syndrome (LDS) 950.00 (MFS) 950.00 Weill-Marchesani syndrome 950.00 All Aortopathy and connective tissue 1,150.00 panels Andersen-Tawil syndrome 750.00 Brugada syndrome (BrS) 950.00 Catecholaminergic polymorphic ventricular (CPVT) 950.00 Long QT syndrome (LQTS) 1,050.00 Short QT syndrome 950.00 All Arrhythmia genes 1,150.00 panels Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) 1,150.00 (DCM) 1,350.00 Hypertrophic cardiomyopathy (HCM) 1,350.00 750.00 Noncompaction cardiomyopathy (LVNC) 950.00 Fabry disease 700.00 All Cardiomyopathy genes 1,500.00 Familial Hypercholesterolemia Familial Hypercholesterolemia (FH) 700.00 Other cardiac conditions and genes Alagille syndrome 750.00 Carney complex 750.00 Heterotaxy/situs ambiguous 1,150.00 Holt-Oram syndrome 700.00 NKX2-5-related disorders 750.00 Noonan spectrum disorders 950.00 SALL4-related disorders 750.00 Vasculopathy panels Birt-Hogg-Dubé syndrome (Primary spontaneous ) 700.00 Capillary malformation-arteriovenous malformation/Parkes-Weber syndrome 700.00 Hereditary Haemorrhagic Telangiectasia (HHT) 700.00 750.00 Megalencephaly Capillary Malformation syndrome 750.00 Microcephaly Capillary Malformation syndrome (MCAP) 750.00 Polycystic kidney disease 750.00 Venous Malformations 750.00 All Vasculopathy genes 950.00

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Clinical Genetics and Genomics Laboratory Royal Brompton Hospital Sydney Street London SW3 6NP Tel: 020 7352 8121 ext. 3009

Panel Cost (£) testing Cystic targeted analysis - 36 most common CFTR in EU populations 175.00 Sequencing of the CFTR 750.00 Non-CF Bronchiectasis 950.00 Primary Ciliary Dyskinesia (PCD) 1,000.00 All Bronchiectasis genes 1,350.00 Ciliopathy panels Joubert syndrome 1,000.00 Orofaciodigital syndrome 850.00 Short rib thoracic dysplasia (Jeune syndrome) 1,000.00 All Ciliopathy genes (including PCD) 1,350.00 Congenital Respiratory conditions panels Alveolar capillary dysplasia 550.00 Ataxia telangiectasia 550.00 Central Hypoventilation syndrome 750.00 Periventricular nodular heterotopia and lung disease 950.00 Primary pulmonary hypoplasia 750.00 Pulmonary alveolar microlithiasis 750.00 All Congenital Respiratory condition genes 1,050.00 Emphysema panels Αlpha-1-Antitrypsin deficiency 400.00 All emphysema genes 750.00 Immunodeficiency panels Agammaglobulinemia 750.00 Autoimmune lymphoproliferative syndrome 700.00 Autoinflammation, antibody deficiency and immune dysregulation syndrome 700.00 Candidiasis, familial 800.00 Hyper-IgE recurrent infection 700.00 Immunodeficiency, common variable 1,050.00 Immunodysregulation, polyendocrinopathy and enteropathy 700.00 Susceptibility to Aspergillosis 700.00 All Immunodeficiency genes 1,150.00 Interstitial Lung Disease (ILD) panels Childhood ILD 875.00 Hermansky-Pudlak syndrome 875.00 Pulmonary fibrosis, familial 1,050.00 Tuberous sclerosis 750.00 All Interstitial Lung Disease (ILD) genes 1,350.00 Other panels Molecular autopsy (sudden cardiac death, SCD) 1,500.00 Pulmonary Hypertension 800.00 All Inherited Cardiac Conditions genes 1,600.00 All Inherited Respiratory Conditions genes 1,600.00

Opening up panel to next level (e.g. cardiomyopathy to all ICCs) 175.00 Familial variant testing (cascade testing) by Sanger sequencing, MLPA or ddPCR 200.00 Extract and store DNA 60.00 Bioinformatic CNV analysis from NGS data (without SNV analysis) 750.00

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