PGxome Custom Sequencing with CNV

The following phenotypes are available on our PGxome Custom Panels (Test #6000)

• 3-Methylcrotonyl-CoA Carboxylase Deficiency Panel
• Achromatopsia (ACHM) Panel
• Acute/Neurovisceral Porphyria Panel
• Agammaglobulinemia Panel
• Agnathia-Otocephaly Complex Panel
• Aicardi-Goutières Syndrome Panel
• Alagille Syndrome Panel
• Alport Syndrome (AS) Panel
• Alzheimer Disease, Familial, Panel
• Ambiguous Genitalia Panel
• Amelogenesis Imperfecta Panel
• Amyotrophic Lateral Sclerosis Panel
• Anophthalmia / Microphthalmia Panel
• Anterior Segment Dysgenesis Disorders Panel
• Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Panel
• Ataxia with Oculomotor Apraxia Panel
• Autism Spectrum Disorders Panel
• Autoimmune Lymphoproliferative Syndrome/ALPS Panel
• Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Panel
• Autosomal Dominant Polycystic Kidney Disease (ADPKD) Panel
• Autosomal Dominant Retinitis Pigmentosa Panel
• Autosomal Recessive Polycystic Kidney Disease (ARPKD) Panel
• Autosomal Recessive Renal Tubular Dysgenesis (RTD) Panel
• Autosomal Recessive Retinitis Pigmentosa Panel
• Axenfeld-Rieger Syndrome Panel
• Bardet-Biedl Syndrome Panel
• Bleeding Disorders Panel
• Brain Malformation Panel
• Branchiootorenal Syndrome Panel
• Breast Cancer - Comprehensive Risk Panel
• Breast Cancer - High / Moderate Risk Panel
• Breast Cancer - High Risk Panel
• Brittle Cornea Syndrome Panel
• Brown-Vialetto-van Laere Syndrome and Fazio-Londe Disease Panel
• Brugada Syndrome Panel
• CADASIL and CARASIL Panel
• Cancer Panel
• Catecholaminergic Polymorphic Ventricular Tachycardia Panel
• Cerebral Cavernous Malformations Panel
• Charcot-Marie-Tooth - Axonal Neuropathy Panel
• Charcot-Marie-Tooth - Comprehensive Panel
• Charcot-Marie-Tooth - Demyelinating Neuropathy Panel
• CHARGE and Kallmann Syndromes Panel
• Cholestasis Panel
• Chromosomal Instability Syndromes Panel
• Chronic Granulomatous Disease Panel
• Chronic Pancreatitis Panel
• Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel
• Chronic/Cutaneous Porphyria Panel
• Ciliopathy Panel
• Cleft Lip/Cleft Palate Panel
• Coagulation Factor Deficiency Panel
• Coenzyme Q10 Ubiquinone Deficiency Panel
• Coffin-Siris Syndrome Panel
• Colorectal Cancer Panel
• Combined Pituitary Hormone Deficiency (CPHD) Panel
• Common Variable Immune Deficiency (CVID) Panel
• Complex Hereditary Spastic Paraplegia Panel
• Comprehensive Brain Malformation Sequencing Panel
• Comprehensive Cardiac Arrhythmia Panel
• Comprehensive Cardiology Panel
• Comprehensive Cataracts Panel
• Comprehensive Epilepsy and Seizure Panel
• Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Panel
• Comprehensive Monogenic Obesity Panel
• Comprehensive Neuromuscular Panel
• Comprehensive Neuropathy Panel
• Comprehensive Ocular Disorders (includes RPGR ORF15) Panel
• Comprehensive Vitreoretinopathy Panel
• Cone-Rod Dystrophy Panel
• Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel
• Congenital Adrenal Hyperplasia (CAH) Panel
• Congenital Cataracts Panel
• Congenital Central Hypoventilation Syndrome (CCHS) Panel
• Congenital Diarrhea and Enteropathies Panel
• Congenital Disorders of Glycosylation (CDG) Panel
• Congenital Disorders of Glycosylation (CDG) Panel (Types Ia, Ib, and Ic)
• Congenital Disorders of Glycosylation (CDG) Panel (Types Id, Ie, If, Ig, Ih, Ii)
• Congenital Dyserythropoietic Anemia Panel
• Congenital Fibrinogen Deficiency Panel
• Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Panel
• Congenital Generalized Lipodystrophy (CGL) Panel
• Congenital Hyperinsulinism Panel
• Congenital Hypothyroidism and Thyroid Hormone Resistance Panel
• Congenital Ichthyosis and Related Disorders Panel
• Congenital Limb Malformation Panel
• Congenital Muscular Dystrophy Panel
• Congenital Myasthenic Syndrome Panel
• Congenital Myopathy Panel
• Congenital Stationary Night Blindness Panel
• Connective Tissue Disorders Panel
• Corneal Dystrophies Panel
• Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Panel
• Cornelia de Lange Syndrome Panel
• Craniosynostosis and Related Disorders Panel
• Cystinuria Panel
• Dementia Panel
• Dent Disease Panel
• Diamond-Blackfan Anemia Panel
• Dilated Cardiomyopathy Panel
• Disorders of Fatty Acid Oxidation Panel
• Disorders of Folate Metabolism and Transport Panel
• Disorders of Sex Development (DSD) and Infertility Panel
• Disorders of Sex Development (DSD) Panel
• Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel
• Distal Arthrogryposis Panel
• Distal Hereditary Motor Neuropathy Panel
• Distal Myopathy Panel
• Distal Renal Tubular Acidosis Panel
• Dyskeratosis Congenita (DC) and Related Disorders Panel
• Dystonia Panel
• Dystroglycan-Related Congenital Muscular Dystrophy Panel
• Early Infantile Epileptic Encephalopathy Panel
• Ectodermal Dysplasia Panel
• Ehlers-Danlos Syndromes Panel
• Ellis-van Creveld Syndrome (EVC) Panel
• Epidermolysis Bullosa and Related Disorders Panel
• Epilepsy and Seizure Plus Panel
• Episodic Pain Syndrome Panel
• Facial Dysostosis Related Disorders Panel
• Familial Atrial Fibrillation Syndrome Panel
• Familial Hemiplegic Migraine Panel
• Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel
• Familial Hypercholesterolemia Panel
• Familial Hypocalciuric Hypercalcemia (FHH) Panel
• Familial Partial Lipodystrophy (FPLD) Panel
• Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Panel
• Fanconi Anemia Panel
• Female Infertility Panel
• Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Panel
• Fetal Concerns Panel
• Flecked Retina Disorder Panel
• Focused Inherited Retinal Disorders Panel
• Fraser Syndrome Panel
• Galactosemia Panel
• Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Panel
• Glanzmann's Thrombasthenia Panel
• Glaucoma Panel
• Glutaric Acidemia Type II Panel
• Glycine Encephalopathy Panel
• Glycogen Storage Disease and Disorders of Glucose Metabolism Panel
• Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Panel
• Hereditary Breast and Ovarian Cancer - High Risk and Lynch Syndrome Panel
• Hereditary Breast and Ovarian Cancer BRCA1/2 Panel
• Hereditary Cystic Kidney Diseases Panel
• Hereditary Endometrial Cancer Panel
• Hereditary Hearing Loss and Deafness Panel
• Hereditary Hemochromatosis Panel
• Hereditary Hemorrhagic Telangiectasia (HHT)/Osler-Weber-Rendu Disease, and Capillary Malformation-Arteriovenous Malformation Syndrome (CM)-AVM Panel
• Hereditary Multiple Osteochondromas (HMO) Panel
• Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) Panel
• Hereditary Ovarian Cancer Panel
• Hereditary Paraganglioma-Pheochromocytoma Syndrome Panel
• Hereditary Polyposis Panel
• Hereditary Sensory and Autonomic Neuropathy Panel
• Hereditary Spastic Paraplegia Comprehensive Panel
• Hereditary Xerocytosis Panel
• Hermansky-Pudlak Syndrome (HPS) Panel
• Heterotaxy, Situs Inversus and Kartagener's Syndrome Panel
• Hirschsprung Disease (Non-syndromic) Panel
• Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel
• Homocystinuria Panel
• Hydrocephalus Panel
• Hydroxyglutaric Aciduria Panel
• Hyper IgE Syndrome Panel
• Hyper IgM Syndrome Panel
• Hyperammonemia Panel
• Hypermethioninemia Panel
• Hyperphenylalaninemia Panel
• Hypertrophic Cardiomyopathy Panel
• Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
• Hypomagnesemia Panel
• Hypoparathyroidism Panel
• Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Panel
• Hypopigmentation Panel
• Hypospadias Panel
• Inborn Errors of Immunity/Primary Immunodeficiency Panel
• Infantile Liver Failure Syndrome Panel
• Infantile Myofibromatosis Panel
• Infantile Parkinsonism-Dystonia Panel
• Inherited Bone Marrow Failure Panel
• Inherited Glycosylphosphatidylinositol Biosynthesis Defects (IGDs) Panel
• Interstitial Lung Disease Panel
• Isolated Polycystic Liver Disease (PCLD) Panel
• Joubert and Meckel-Gruber Syndromes Panel
• Kabuki Syndrome Panel
• Kallmann Syndrome (KS) Panel
• Kenny-Caffey Syndrome Panel
• Klippel-Feil Syndrome Panel
• Leber Congenital Amaurosis Panel
• Left Ventricular Noncompaction (LVNC) Panel
• Leigh and Leigh-Like Syndrome Panel (Nuclear Genes Only)
• Leukodystrophy and Leukoencephalopathy Panel
• Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Panel
• Limb Girdle Muscular Dystrophy (LGMD) Panel
• Loeys-Dietz Syndrome Panel
• Long QT Syndrome Panel
• Lymphedema Panel
• Lynch Syndrome Panel
• Male Infertility Panel
• Malignant Hyperthermia Susceptibility Panel
• Maple Syrup Urine Disease Panel
• Marfan Syndrome and Related Aortopathies Panel
• Maturity Onset Diabetes of the Young (MODY) Panel
• Megalencephalic Leukoencephalopathy with Subcortical Cysts Panel
• Meier-Gorlin Syndrome Panel
• Melanoma Panel
• Metabolic Hypoglycemia Panel
• Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel
• Metachromatic Leukodystrophy Panel
• Methylmalonic Acidemia Panel
• Methylmalonic Aciduria and Homocystinuria Panel
• Mitochondrial Complex I Deficiency Panel (Nuclear Genes)
• Mitochondrial Complex II Deficiency Panel
• Mitochondrial Complex III Deficiency Panel (Nuclear Genes)
• Mitochondrial Complex IV Deficiency Panel (Nuclear Genes)
• Mitochondrial Complex V Deficiency Panel (Nuclear Genes)
• Mitochondrial Genome Maintenance/Integrity Nuclear Genes Panel
• Mitochondrial Oxidative Phosphorylation Deficiency Panel (Nuclear Genes Only)
• Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Panel
• Mucopolysaccharidosis Type III Panel
• Multiple Epiphyseal Dysplasia Panel
• Nemaline Myopathy Panel
• Neonatal Crisis Panel
• Nephrolithiasis and Nephrocalcinosis Panel
• Nephronophthisis and Senior-Loken Syndrome Panel
• Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Panel
• Neuroblastoma Panel
• Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Panel
• Neurofibromatosis Type 1 and Legius Syndrome Panel
• Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Panel
• Neuronal Ceroid Lipofuscinoses (Batten Disease) Panel
• Niemann-Pick Disease Type C Panel
• Non-Immune Hydrops Fetalis Panel
• Non-syndromic Intellectual Disability (NS-ID) Panel
• Non-Syndromic Monogenic Obesity Panel
• Noonan Spectrum Disorders/RASopathies Panel
• Oculocutaneous Albinism Panel
• Omenn Syndrome Panel
• Opitz G/BBB Syndrome Panel
• Optic Atrophy Panel
• Organic Aciduria Panel
• Osteogenesis Imperfecta and Hypophosphatasia (HPP) Panel
• Osteogenesis Imperfecta Panel
• Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Panel
• Overgrowth and Macrocephaly Syndromes Panel
• Paget Disease of Bone (PDB) Panel
• Pan Cardiomyopathy Panel
• Pancreatic Cancer Panel
• Parkinson Disease and Parkinsonism Panel
• Parkinson Disease Panel
• Pediatric Cancer Panel
• Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Panel
• Periodic Fever Syndromes Panel
• Peroxisomal Disorders Panel
• Platelet Function Disorder Panel
• Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Panel
• Polycystic Liver Disease (PLD) Panel
• Pontocerebellar Hypoplasia Panel
• Porphyria Panel
• Premature Ovarian Failure (POF) Panel
• Primary Aldosteronism Panel
• Primary Antibody Deficiency Panel
• Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Panel
• Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Panel
• Primary Hyperoxaluria Panel
• Primary Microcephaly, Autosomal Recessive, Panel
• Primary Periodic Paralysis Panel
• Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Panel
• Propionic Acidemia Panel
• Prostate Cancer Panel
• Pseudohypoaldosteronism Type I Panel
• Pseudohypoaldosteronism Type II Panel
• Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel
• Pure Hereditary Spastic Paraplegia Panel
• Pyruvate Dehydrogenase Complex Deficiency Panel
• Renal Cancer Panel
• Retinitis Pigmentosa (includes RPGR ORF15) Panel
• Rett Syndrome, Angelman Syndrome and Variant Syndromes Panel
• Rotor Syndrome Panel
• Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Panel
• Schwannomatosis Panel
• Septo-optic Dysplasia Spectrum Panel
• Severe Congenital Neutropenia Panel
• Short QT Syndrome Panel
• Short Rib Skeletal Dysplasia Panel
• Sitosterolemia Panel
• Skeletal Disorders and Joint Problems Panel
• Spherocytosis/Elliptocytosis Panel
• Spondylocostal Dysostosis Panel
• Stargardt Disease (STGD) and Macular Dystrophies Panel
• Stickler Syndrome Panel
• Stuttering Panel
• Sudden Cardiac Arrest Panel
• Thrombocytopenia Panel
• Thrombocytopenia Panel - Expanded
• Tooth Agenesis Panel
• Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Panel
• Tuberous Sclerosis Complex Panel
• Type VI-Related Collagenopathy Panel
• Tyrosinemia Panel
• Urea Cycle Disorders Panel
• Usher Syndrome Panel
• Van der Woude Syndrome Panel
• Waardenburg Syndrome Panel
• Warburg Micro Syndrome Panel
• Wolfram Syndrome Panel
• X-Linked Intellectual Disability Panel
• X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Panel
• Xeroderma Pigmentosum Panel