METHOD KEY
- Sequencing with CNV
PGxome - Sequencing with CNV
PG-Select - CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other
Search Results
Test Descriptions Found: 341
Searched: panel
PGxome Custom Sequencing with CNV
The following phenotypes are available on our Custom Panels (Test #6000)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency Panel
- Achromatopsia (ACHM) Panel
- Acute/Neurovisceral Porphyria Panel
- Adams-Oliver Syndrome Panel
- Agammaglobulinemia Panel
- Agnathia-Otocephaly Complex Panel
- Aicardi-Goutières Syndrome Panel
- Alagille Syndrome Panel
- Alport Syndrome Panel
- Alzheimer Disease, Familial, Panel
- Ambiguous Genitalia Panel
- Amelogenesis Imperfecta Panel
- Amyotrophic Lateral Sclerosis (ALS) Panel
- Anterior Segment Dysgenesis Disorders Panel
- Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)/Dysplasia Panel
- Ataxia with Oculomotor Apraxia Panel
- Autism Spectrum Disorders (ASD) 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 (RP) Panel
- Autosomal Recessive Polycystic Kidney Disease (ARPKD) Panel
- Autosomal Recessive Renal Tubular Dysgenesis (RTD) Panel
- Autosomal Recessive Retinitis Pigmentosa (RP) Panel
- Axenfeld-Rieger Syndrome Panel
- Bardet-Biedl Syndrome (BBS) Panel
- Bleeding Disorders Panel
- Bone Fragility and Fracture 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
- Cerebral Small Vessel Disease Panel
- Charcot-Marie-Tooth (CMT) - Axonal Neuropathy Panel
- Charcot-Marie-Tooth (CMT) - Comprehensive Panel
- Charcot-Marie-Tooth (CMT) - 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 Panel
- Comprehensive Cardiac Arrhythmia Panel
- Comprehensive Cardiology Panel
- Comprehensive Cataracts Panel
- Comprehensive Congenital Heart Disease 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 (CMD) Panel
- Congenital Myasthenic Syndrome Panel
- Congenital Myopathy Panel
- Congenital Stationary Night Blindness Panel
- Connective Tissue Disorders Panel
- Corneal Dystrophies Panel
- Cornelia de Lange Syndrome (CdLS) and Cornelia de Lange Syndrome-Related Disorders Panel
- Cornelia de Lange Syndrome (CdLS) Panel
- Craniosynostosis and Related Disorders Panel
- Cystinuria Panel
- Dementia Panel
- Dent Disease Panel
- Diamond-Blackfan Anemia Panel
- Dilated Cardiomyopathy Panel
- Disorders of Copper Metabolism Panel
- Disorders of Fatty Acid Oxidation (FAOD) 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 (EDS) Panel
- Ellis-van Creveld Syndrome (EVC) Panel
- Epidermolysis Bullosa (EBS) and Related Disorders Panel
- Epilepsy and Seizure Plus Panel
- Episodic Pain Syndrome Panel
- Facial Dysostosis Related Disorders Panel
- Familial Atrial Fibrillation Syndrome Panel
- Familial Chylomicronemia Panel
- Familial Hemiplegic Migraine and Alternating Hemiplegia of Childhood Panel
- Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel
- Familial Hypercholesterolemia (FH) 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 (FADS)/Lethal Multiple Pterygium Syndrome Panel
- Flecked Retina Disorder Panel
- Focused Inherited Retinal Disorders Panel
- Fraser Syndrome Panel
- Galactosemia Panel
- Galloway-Mowat Syndrome (GAMOS) Panel
- Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Panel
- Generalized, Partial and Atypical Lipodystrophy Panel
- Glanzmann's Thrombasthenia Panel
- Glaucoma Panel
- Glutaric Acidemia Type II Panel
- Glycine Encephalopathy Panel
- Glycogen Storage Disease (GSD) 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 Hemolytic Anemia 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 (PGL/PCC) 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
- Hypoglycemia Panel - Expanded
- 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 (PID) Panel
- Infantile Liver Failure Syndrome Panel
- Infantile Myofibromatosis Panel
- Infantile Parkinsonism-Dystonia Panel
- Inherited Bone Marrow Failure Panel
- Inherited Glycosylphosphatidylinositol Biosynthesis Defects (IGDs) Panel
- Inherited Platelet Function Disorder 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
- Lissencephaly Panel
- Loeys-Dietz Syndrome Panel
- Long QT Syndrome Panel
- Lymphedema Panel
- Lynch Syndrome Panel
- Lysosomal Storage Disorders 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
- Medulloblastoma 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
- Microphthalmia/Anophthalmia/Coloboma 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 Disorders Panel (Nuclear Genes Only)
- Mitochondrial Genome Maintenance/Integrity Nuclear Genes Panel
- 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
- Neonatal Respiratory Distress 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 (NF) 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 Monogenic Obesity Panel
- Nonsyndromic Congenital Heart Disease Panel
- Noonan Spectrum Disorders/RASopathies Panel
- Oculocutaneous Albinism (OCA) 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
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Panel
- Polycystic Liver Disease (PLD) Panel
- Polydactyly and Syndactyly Panel
- Polydactyly 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 Arterial Hypertension (PAH) 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 Combined Immunodeficiency (SCID) 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
- Sterol Disorders Panel
- Stickler Syndrome Panel
- Stuttering Panel
- Sudden Cardiac Arrest Panel
- Syndactyly Panel
- Thrombocytopenia Panel
- Thrombocytopenia Panel - Expanded
- Tooth Agenesis Panel
- Top 99 Genetic Causes of Developmental Delay Panel
- Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller Syndrome/Acrofacial Dysostosis, Nagar Type Panel
- Trimethylaminuria via the FMO3 Gene
- Tuberous Sclerosis Complex (TSC) Panel
- Type VI-Related Collagenopathy Panel
- Tyrosinemia Panel
- Urea Cycle Disorders Panel
- Usher Syndrome Panel
- VACTERL Association and Related Disorders Panel
- Van der Woude Syndrome Panel
- Waardenburg Syndrome Panel
- Warburg Micro Syndrome Panel
- Wilms Tumor Panel
- Wolfram Syndrome Panel
- X-Linked Intellectual Disability Panel
- X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Panel
- Xeroderma Pigmentosum (XP) Panel
Single Gene Test(s) Available | Method | Price |
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METHOD KEY
- Sequencing with CNV
PGxome - Sequencing with CNV
PG-Select - CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other