Condition Screening


Hereditary Cancer

Hereditary Breast and Ovarian Cancer with the Chemopreventive Information

Connective Tissue Disorder Cancer Panel

Endocrine Cancer Panel

ENT Cancer Panel

Nephrology Cancer

Neurology Cancer

Ophthalmic Cancer

Cardiology

Comprehensive Cardiology Panel

Arrhythmia Panel

Brugada Syndrome Panel

Cardiomyopathy Panel

Dilated Cardiomyopathy (DCM) Panel

Ehlers-Danlos Syndrome Panel

Hyperlipidemia Panel

Hypertrophic Cardiomyopathy (HCM) Panel

Long QT Syndrome (LQTS) Panel

Marfan Syndrome Panel

Noonan Syndrome Panel

Pulmonary Artery Hypertension Panel

Short QT Syndrome (SQTS) Panel

Neurology

Ataxia Panel

Autism Spectrum Disorders Panel

Comprehensive Epilepsy Panel

Comprehensive Muscular Dystrophy Panel

Dementia Panel

Holoprosencephaly Panel

Metabolic Epilepsy Panel

Migraine Panel

Spinal Muscular Atrophy Panel

Tuberous Sclerosis Panel

X-linked Intellectual Disability Panel

Pulmonology

Comprehensive Pulmonology Panel

Cystic Lung Disease Panel

Pulmonary Artery Hypertension (PAH) Panel

Endocrinology

Abnormal Genitalia/ Disorders of Sex Development Panel

Comprehensive Monogenic Diabetes Panel

Congenital Adrenal Hyperplasia Panel

Glucocorticoid Deficiency Panel

Hyperlipidemia Panel

Hyperparathyroidism Panel

Kallmann Syndrome Panel

MODY Panel

Monogenic Obesity Panel

Premature Ovarian Failure Panel

Metabolic Disorders

Comprehensive Metabolism Panel

Coenzyme q10 Deficiency Panel

Congenital and Familial Lipodystrophy Panel

Cystinuria Panel

Glycogen Storage Disorder Panel

Hereditary Hemochromatosis Panel

Homocystinuria Core Panel

Hyperphenylalaninemia Panel

Lysosomal Disorders and Mucopolysaccharidosis Panel

Metabolic Liver Failure Panel

Mitochondrial DNA Depletion Syndrome Panel

Monogenic Obesity Panel

Peroxisomal Disorders Panel

Purine and Pyrimidine Metabolism Disorders Panel

Ophthalmology

Bardet-Biedl Syndrome Panel

Cone Rod Dystrophy Panel

Corneal Dystrophy Panel

Glaucoma Panel

Joubert Syndrome Panel

Leber Congenital Amaurosis Panel

Macular Dystrophy Panel

Optic Atrophy Panel

Retinal Dystrophy Panel

Retinitis Pigmentosa Panel

Usher Syndrome Panel

Dermatology

Ehlers-Danlos Syndrome Panel

Neurofibromatosis Panel

Ichthyosis Panel

Xeroderma Pigmentosum Panel

Cutis Laxa Panel

Albinism Panel

Ectodermal Dysplasia Panel

Gastroenterology

Comprehensive Gastroenterology Panel

Gastrointestinal Atresia Panel

Hirschsprung Disease Panel

Pancreatitis Panel

Nephrology

Alport Syndrome Panel

Bardet-Biedl Syndrome Panel

Cystic Kidney Disease Panel

Joubert Syndrome Panel

Meckel Syndrome Panel

Monogenic Obesity Panel

Nephrotic Syndrome Panel

Polycystic Kidney Disease Panel

Renal Malformation Panel

Ear, Nose & Throat

Alport Syndrome Panel

Hereditary Hemorrhagic Telangiectasia (HHT) Panel

Non-Syndromic Hearing Loss Panel

Stickler Syndrome Panel

Syndromic Hearing Loss Panel

Usher Syndrome Panel

Waardenburg Syndrome Panel

Malformations

Comprehensive Skeletal Dysplasias and Disorders Panel

Comprehensive Skeletal Dysplasias and Disorders Panel

Craniosynostosis Panel

Gastrointestinal Atresia Panel

Hirschsprung Disease Panel

Holoprosencephaly Panel

Kabuki Syndrome Panel

Limb Malformations Panel

Neurofibromatosis Panel

Skeletal Dysplasia with Abnormal Mineralization Panel

Vascular Malformations Panel

Mitochondrial Disorders

Mitochondrial Genome Test

Please contact us for more information on the disease list