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METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
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Search Results

Test Descriptions Found: 341
Searched: panel

# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Panel(s) Available Method Price
3-Methylcrotonyl-CoA Carboxylase Deficiency Panel
Sequencing with CNV
PGxome
$890
Achromatopsia (ACHM) Panel
Sequencing with CNV
PGxome
$890
Acute/Neurovisceral Porphyria Panel
Sequencing with CNV
PGxome
$890
Adams-Oliver Syndrome Panel
Sequencing with CNV
PGxome
$890
Agammaglobulinemia Panel
Sequencing with CNV
PGxome
$890
Agnathia-Otocephaly Complex Panel
Sequencing with CNV
PGxome
$890
Aicardi-Goutières Syndrome Panel
Sequencing with CNV
PGxome
$890
Alagille Syndrome Panel
Sequencing with CNV
PGxome
$890
Alpha Thalassemia Deletion/Duplication and Constant Spring Panel
MLPA
$540
Alpha Thalassemia Panel
Other
$1470
Alport Syndrome Panel
Sequencing with CNV
PGxome
$890
Alzheimer Disease, Familial, Panel
Sequencing with CNV
PG-Select
$640
Ambiguous Genitalia Panel
Sequencing with CNV
PGxome
$990
Amelogenesis Imperfecta Panel
Sequencing with CNV
PGxome
$890
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel
Sequencing with CNV
PGxome
$930
Amyotrophic Lateral Sclerosis (ALS) Panel
Sequencing with CNV
PGxome
$840
Anterior Segment Dysgenesis Disorders Panel
Sequencing with CNV
PGxome
$1670
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)/Dysplasia Panel
Sequencing with CNV
PGxome
$890
Ataxia with Oculomotor Apraxia Panel
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders (ASD) Panel
Sequencing with CNV
PGxome
$1280
Autoimmune Lymphoproliferative Syndrome/ALPS Panel
Sequencing with CNV
PGxome
$890
Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Panel
Sequencing with CNV
PGxome
$1290
Autosomal Dominant Polycystic Kidney Disease (ADPKD) Panel
Sequencing with CNV
PGxome
$1290
Autosomal Dominant Retinitis Pigmentosa (RP) Panel
Sequencing with CNV
PGxome
$890
Autosomal Recessive Polycystic Kidney Disease (ARPKD) Panel
Sequencing with CNV
PGxome
$890
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Panel
Sequencing with CNV
PGxome
$890
Autosomal Recessive Retinitis Pigmentosa (RP) Panel
Sequencing with CNV
PGxome
$1030
Axenfeld-Rieger Syndrome Panel
Sequencing with CNV
PGxome
$990
Bardet-Biedl Syndrome (BBS) Panel
Sequencing with CNV
PGxome
$890
Bleeding Disorders Panel
Sequencing with CNV
PGxome
$1200
Bone Fragility and Fracture Panel
Sequencing with CNV
PGxome
$1190
Brain Malformation Panel
Sequencing with CNV
PGxome
$890
Branchiootorenal Syndrome Panel
Sequencing with CNV
PGxome
$890
Breast Cancer - Comprehensive Risk Panel
Sequencing with CNV
PG-Select
$540
Breast Cancer - High / Moderate Risk Panel
Sequencing with CNV
PG-Select
$540
Breast Cancer - High Risk Panel
Sequencing with CNV
PG-Select
$540
Brittle Cornea Syndrome Panel
Sequencing with CNV
PGxome
$890
Brown-Vialetto-van Laere Syndrome and Fazio-Londe Disease Panel
Sequencing with CNV
PGxome
$890
Brugada Syndrome Panel
Sequencing with CNV
PGxome
$890
CADASIL and CARASIL Panel
Sequencing with CNV
PGxome
$960
Cancer Panel
Sequencing with CNV
PG-Select
$690
Catecholaminergic Polymorphic Ventricular Tachycardia Panel
Sequencing with CNV
PGxome
$890
Cerebral Cavernous Malformations Panel
Sequencing with CNV
PG-Select
$640
Cerebral Small Vessel Disease Panel
Sequencing with CNV
PGxome
$1140
Charcot-Marie-Tooth (CMT) - Axonal Neuropathy Panel
Sequencing with CNV
PGxome
$890
Charcot-Marie-Tooth (CMT) - Comprehensive Panel
Sequencing with CNV
PGxome
$890
Charcot-Marie-Tooth (CMT) - Demyelinating Neuropathy Panel
Sequencing with CNV
PGxome
$890
CHARGE and Kallmann Syndromes Panel
Sequencing with CNV
PG-Select
$990
Cholestasis Panel
Sequencing with CNV
PGxome
$890
Chromosomal Instability Syndromes Panel
Sequencing with CNV
PGxome
$890
Chronic Granulomatous Disease Panel
Sequencing with CNV
PGxome
$890
Chronic Pancreatitis Panel
Sequencing with CNV
PGxome
$1100
Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel
Sequencing with CNV
PGxome
$930
Chronic/Cutaneous Porphyria Panel
Sequencing with CNV
PGxome
$890
Ciliopathy Panel
Sequencing with CNV
PGxome
$1090
Cleft Lip/Cleft Palate Panel
Sequencing with CNV
PGxome
$1240
Coagulation Factor Deficiency Panel
Sequencing with CNV
PGxome
$1030
Coenzyme Q10 Ubiquinone Deficiency Panel
Sequencing with CNV
PGxome
$890
Coffin-Siris Syndrome Panel
Sequencing with CNV
PGxome
$1100
Colorectal Cancer Panel
Sequencing with CNV
PG-Select
$540
Combined Pituitary Hormone Deficiency (CPHD) Panel
Sequencing with CNV
PGxome
$930
Common Variable Immune Deficiency (CVID) Panel
Sequencing with CNV
PGxome
$890
Complex Hereditary Spastic Paraplegia Panel
Sequencing with CNV
PGxome
$1100
Comprehensive Brain Malformation Panel
Sequencing with CNV
PGxome
$1490
Comprehensive Cardiac Arrhythmia Panel
Sequencing with CNV
PGxome
$1030
Comprehensive Cardiology Panel
Sequencing with CNV
PGxome
$1310
Comprehensive Cataracts Panel
Sequencing with CNV
PGxome
$1310
Comprehensive Congenital Heart Disease Panel
Sequencing with CNV
PGxome
$1490
Comprehensive Epilepsy and Seizure Panel
Sequencing with CNV
PGxome
$1490
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Panel
Sequencing with CNV
PGxome
$1740
Comprehensive Monogenic Obesity Panel
Sequencing with CNV
PG-Select
$790
Comprehensive Neuromuscular Panel
Sequencing with CNV
PGxome
$1280
Comprehensive Neuropathy Panel
Sequencing with CNV
PGxome
$990
Comprehensive Ocular Disorders (includes RPGR ORF15) Panel
Sequencing with CNV
PGxome
$1990
Comprehensive Vitreoretinopathy Panel
Sequencing with CNV
PGxome
$890
Cone-Rod Dystrophy Panel
Sequencing with CNV
PGxome
$890
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel
Sequencing with CNV
PGxome
$990
Congenital Adrenal Hyperplasia (CAH) Panel
Sequencing with CNV
PGxome
$1940
Congenital Cataracts Panel
Sequencing with CNV
PGxome
$990
Congenital Central Hypoventilation Syndrome (CCHS) Panel
Sequencing with CNV
PGxome
$990
Congenital Diarrhea and Enteropathies Panel
Sequencing with CNV
PGxome
$1420
Congenital Disorders of Glycosylation (CDG) Panel
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation (CDG) Panel (Types Ia, Ib, and Ic)
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation (CDG) Panel (Types Id, Ie, If, Ig, Ih, Ii)
Sequencing with CNV
PGxome
$890
Congenital Dyserythropoietic Anemia Panel
Sequencing with CNV
PGxome
$890
Congenital Fibrinogen Deficiency Panel
Sequencing with CNV
PGxome
$890
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Panel
Sequencing with CNV
PGxome
$890
Congenital Generalized Lipodystrophy (CGL) Panel
Sequencing with CNV
PGxome
$890
Congenital Hyperinsulinism Panel
Sequencing with CNV
PGxome
$930
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel
Sequencing with CNV
PGxome
$890
Congenital Ichthyosis and Related Disorders Panel
Sequencing with CNV
PGxome
$890
Congenital Limb Malformation Panel
Sequencing with CNV
PGxome
$1030
Congenital Muscular Dystrophy (CMD) Panel
Sequencing with CNV
PGxome
$890
Congenital Myasthenic Syndrome Panel
Sequencing with CNV
PGxome
$890
Congenital Myopathy Panel
Sequencing with CNV
PGxome
$890
Congenital Stationary Night Blindness Panel
Sequencing with CNV
PGxome
$930
Connective Tissue Disorders Panel
Sequencing with CNV
PGxome
$1310
Corneal Dystrophies Panel
Sequencing with CNV
PGxome
$890
Cornelia de Lange Syndrome (CdLS) and Cornelia de Lange Syndrome-Related Disorders Panel
Sequencing with CNV
PGxome
$930
Cornelia de Lange Syndrome (CdLS) Panel
Sequencing with CNV
PGxome
$960
Craniosynostosis and Related Disorders Panel
Sequencing with CNV
PGxome
$890
Cystinuria Panel
Sequencing with CNV
PGxome
$890
Dementia Panel
Sequencing with CNV
PGxome
$890
Dent Disease Panel
Sequencing with CNV
PGxome
$890
Diamond-Blackfan Anemia Panel
Sequencing with CNV
PGxome
$1030
Dilated Cardiomyopathy Panel
Sequencing with CNV
PGxome
$1030
Disorders of Copper Metabolism Panel
Sequencing with CNV
PGxome
$890
Disorders of Fatty Acid Oxidation (FAOD) Panel
Sequencing with CNV
PGxome
$890
Disorders of Folate Metabolism and Transport Panel
Sequencing with CNV
PGxome
$890
Disorders of Sex Development (DSD) and Infertility Panel
Sequencing with CNV
PGxome
$1490
Disorders of Sex Development (DSD) Panel
Sequencing with CNV
PGxome
$1240
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel
Sequencing with CNV
PGxome
$960
Distal Arthrogryposis Panel
Sequencing with CNV
PGxome
$890
Distal Hereditary Motor Neuropathy Panel
Sequencing with CNV
PGxome
$890
Distal Myopathy Panel
Sequencing with CNV
PGxome
$890
Distal Renal Tubular Acidosis Panel
Sequencing with CNV
PGxome
$890
Dyskeratosis Congenita (DC) and Related Disorders Panel
Sequencing with CNV
PGxome
$890
Dystonia Panel
Sequencing with CNV
PGxome
$890
Dystroglycan-Related Congenital Muscular Dystrophy Panel
Sequencing with CNV
PGxome
$890
Early Infantile Epileptic Encephalopathy Panel
Sequencing with CNV
PGxome
$1240
Ectodermal Dysplasia Panel
Sequencing with CNV
PGxome
$890
Ehlers-Danlos Syndromes (EDS) Panel
Sequencing with CNV
PGxome
$1340
Ellis-van Creveld Syndrome (EVC) Panel
Sequencing with CNV
PGxome
$890
Epidermolysis Bullosa (EBS) and Related Disorders Panel
Sequencing with CNV
PGxome
$890
Epilepsy and Seizure Plus Panel
Sequencing with CNV
PG-Select
$790
Episodic Pain Syndrome Panel
Sequencing with CNV
PGxome
$890
Facial Dysostosis Related Disorders Panel
Sequencing with CNV
PGxome
$890
Familial Atrial Fibrillation Syndrome Panel
Sequencing with CNV
PGxome
$890
Familial Chylomicronemia Panel
Sequencing with CNV
PGxome
$890
Familial Hemiplegic Migraine and Alternating Hemiplegia of Childhood Panel
Sequencing with CNV
PGxome
$890
Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel
Sequencing with CNV
PGxome
$890
Familial Hypercholesterolemia (FH) Panel
Sequencing with CNV
PGxome
$890
Familial Hypocalciuric Hypercalcemia (FHH) Panel
Sequencing with CNV
PGxome
$890
Familial Partial Lipodystrophy (FPLD) Panel
Sequencing with CNV
PGxome
$890
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Panel
Sequencing with CNV
PG-Select
$640
Fanconi Anemia Panel
Sequencing with CNV
PGxome
$1380
Female Infertility Panel
Sequencing with CNV
PGxome
$1310
Fetal Akinesia Deformation Sequence (FADS)/Lethal Multiple Pterygium Syndrome Panel
Sequencing with CNV
PGxome
$890
Fetal Concerns Panel
Sequencing with CNV
PGxome
$890
Flecked Retina Disorder Panel
Sequencing with CNV
PGxome
$890
Focused Inherited Retinal Disorders Panel
Sequencing with CNV
PGxome
$890
Fraser Syndrome Panel
Sequencing with CNV
PGxome
$890
Galactosemia Panel
Sequencing with CNV
PGxome
$890
Galloway-Mowat Syndrome (GAMOS) Panel
Sequencing with CNV
PGxome
$960
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Panel
Sequencing with CNV
PGxome
$2150
Generalized, Partial and Atypical Lipodystrophy Panel
Sequencing with CNV
PGxome
$930
Glanzmann's Thrombasthenia Panel
Sequencing with CNV
PGxome
$890
Glaucoma Panel
Sequencing with CNV
PGxome
$960
Glutaric Acidemia Type II Panel
Sequencing with CNV
PGxome
$890
Glycine Encephalopathy Panel
Sequencing with CNV
PGxome
$960
Glycogen Storage Disease (GSD) and Disorders of Glucose Metabolism Panel
Sequencing with CNV
PGxome
$1030
Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Panel
Sequencing with CNV
PG-Select
$540
Hereditary Breast and Ovarian Cancer - High Risk and Lynch Syndrome Panel
Sequencing with CNV
PG-Select
$540
Hereditary Breast and Ovarian Cancer BRCA1/2 Panel
Sequencing with CNV
PG-Select
$540
Hereditary Cystic Kidney Diseases Panel
Sequencing with CNV
PGxome
$1290
Hereditary Endometrial Cancer Panel
Sequencing with CNV
PG-Select
$540
Hereditary Hearing Loss and Deafness Panel
Sequencing with CNV
PGxome
$1290
Hereditary Hemochromatosis Panel
Sequencing with CNV
PGxome
$890
Hereditary Hemolytic Anemia Panel
Sequencing with CNV
PGxome
$890
Hereditary Hemorrhagic Telangiectasia (HHT)/Osler-Weber-Rendu Disease, and Capillary Malformation-Arteriovenous Malformation Syndrome (CM)-AVM Panel
Sequencing with CNV
PGxome
$890
Hereditary Multiple Osteochondromas (HMO) Panel
Sequencing with CNV
PGxome
$890
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) Panel
Sequencing with CNV
PGxome
$990
Hereditary Ovarian Cancer Panel
Sequencing with CNV
PG-Select
$540
Hereditary Paraganglioma-Pheochromocytoma (PGL/PCC) Syndrome Panel
Sequencing with CNV
PG-Select
$540
Hereditary Polyposis Panel
Sequencing with CNV
PG-Select
$540
Hereditary Sensory and Autonomic Neuropathy Panel
Sequencing with CNV
PGxome
$960
Hereditary Spastic Paraplegia Comprehensive Panel
Sequencing with CNV
PGxome
$1310
Hereditary Xerocytosis Panel
Sequencing with CNV
PGxome
$890
Hermansky-Pudlak Syndrome (HPS) Panel
Sequencing with CNV
PGxome
$890
Heterotaxy, Situs Inversus and Kartagener's Syndrome Panel
Sequencing with CNV
PGxome
$890
Hirschsprung Disease (Non-syndromic) Panel
Sequencing with CNV
PGxome
$890
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel
Sequencing with CNV
PGxome
$890
Homocystinuria Panel
Sequencing with CNV
PGxome
$890
Hydrocephalus Panel
Sequencing with CNV
PGxome
$890
Hydroxyglutaric Aciduria Panel
Sequencing with CNV
PGxome
$890
Hyper IgE Syndrome Panel
Sequencing with CNV
PGxome
$890
Hyper IgM Syndrome Panel
Sequencing with CNV
PGxome
$890
Hyperammonemia Panel
Sequencing with CNV
PGxome
$1030
Hypermethioninemia Panel
Sequencing with CNV
PGxome
$890
Hyperphenylalaninemia Panel
Sequencing with CNV
PG-Select
$640
Hypertrophic Cardiomyopathy Panel
Sequencing with CNV
PGxome
$890
Hypoglycemia Panel - Expanded
Sequencing with CNV
PGxome
$1280
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Sequencing with CNV
PGxome
$930
Hypomagnesemia Panel
Sequencing with CNV
PGxome
$930
Hypoparathyroidism Panel
Sequencing with CNV
PGxome
$960
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Panel
Sequencing with CNV
PGxome
$890
Hypopigmentation Panel
Sequencing with CNV
PGxome
$890
Hypospadias Panel
Sequencing with CNV
PGxome
$990
Idiopathic Basal Ganglia Calcification Panel
Sequencing with CNV
PGxome
$890
Inborn Errors of Immunity/Primary Immunodeficiency (PID) Panel
Sequencing with CNV
PGxome
$1490
Infantile Liver Failure Syndrome Panel
Sequencing with CNV
PGxome
$890
Infantile Myofibromatosis Panel
Sequencing with CNV
PGxome
$890
Infantile Parkinsonism-Dystonia Panel
Sequencing with CNV
PGxome
$890
Inherited Bone Marrow Failure Panel
Sequencing with CNV
PGxome
$1450
Inherited Glycosylphosphatidylinositol Biosynthesis Defects (IGDs) Panel
Sequencing with CNV
PGxome
$890
Inherited Platelet Function Disorder Panel
Sequencing with CNV
PGxome
$930
Intellectual Disability, Epilepsy, and Autism (IDEA) Panel
Sequencing with CNV
PGxome
$1690
Interstitial Lung Disease Panel
Sequencing with CNV
PGxome
$1210
Isolated Polycystic Liver Disease (PCLD) Panel
Sequencing with CNV
PGxome
$930
Joubert and Meckel-Gruber Syndromes Panel
Sequencing with CNV
PGxome
$890
Kabuki Syndrome Panel
Sequencing with CNV
PGxome
$1070
Kallmann Syndrome (KS) Panel
Sequencing with CNV
PGxome
$1030
Kenny-Caffey Syndrome Panel
Sequencing with CNV
PGxome
$890
Klippel-Feil Syndrome Panel
Sequencing with CNV
PGxome
$930
Leber Congenital Amaurosis Panel
Sequencing with CNV
PGxome
$890
Left Ventricular Noncompaction (LVNC) Panel
Sequencing with CNV
PGxome
$890
Leigh and Leigh-Like Syndrome Panel (Nuclear Genes Only)
Sequencing with CNV
PGxome
$990
Leukodystrophy and Leukoencephalopathy Panel
Sequencing with CNV
PGxome
$1240
Leukodystrophy and Leukoencephalopathy, Adult Onset Panel
Sequencing with CNV
PGxome
$890
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Panel
Sequencing with CNV
PGxome
$890
Limb Girdle Muscular Dystrophy (LGMD) Panel
Sequencing with CNV
PGxome
$890
Lissencephaly Panel
Sequencing with CNV
PGxome
$1070
Loeys-Dietz Syndrome Panel
Sequencing with CNV
PG-Select
$640
Long QT Syndrome Panel
Sequencing with CNV
PGxome
$890
Lymphedema Panel
Sequencing with CNV
PGxome
$1140
Lynch Syndrome Panel
Sequencing with CNV
PG-Select
$540
Lysosomal Storage Disorders Panel
Sequencing with CNV
PGxome
$1280
Male Infertility Panel
Sequencing with CNV
PGxome
$1380
Malignant Hyperthermia Susceptibility Panel
Sequencing with CNV
PGxome
$890
Maple Syrup Urine Disease Panel
Sequencing with CNV
PG-Select
$640
Marfan Syndrome and Related Aortopathies Panel
Sequencing with CNV
PG-Select
$640
Maturity Onset Diabetes of the Young (MODY) Panel
Sequencing with CNV
PGxome
$890
Medulloblastoma Panel
Sequencing with CNV
PGxome
$890
Megalencephalic Leukoencephalopathy with Subcortical Cysts Panel
Sequencing with CNV
PG-Select
$640
Meier-Gorlin Syndrome Panel
Sequencing with CNV
PGxome
$890
Melanoma Panel
Sequencing with CNV
PG-Select
$540
Mendelian Susceptibility to Mycobacterial Disease Panel
Sequencing with CNV
PGxome
$930
Metabolic Hypoglycemia Panel
Sequencing with CNV
PGxome
$960
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel
Sequencing with CNV
PGxome
$1130
Metachromatic Leukodystrophy Panel
Sequencing with CNV
PG-Select
$640
Methylmalonic Acidemia Panel
Sequencing with CNV
PGxome
$930
Methylmalonic Aciduria and Homocystinuria Panel
Sequencing with CNV
PGxome
$960
Microphthalmia/Anophthalmia/Coloboma Panel
Sequencing with CNV
PGxome
$1090
Mitochondrial Complex I Deficiency Panel (Nuclear Genes)
Sequencing with CNV
PGxome
$890
Mitochondrial Complex II Deficiency Panel
Sequencing with CNV
PGxome
$1170
Mitochondrial Complex III Deficiency Panel (Nuclear Genes)
Sequencing with CNV
PGxome
$890
Mitochondrial Complex IV Deficiency Panel (Nuclear Genes)
Sequencing with CNV
PGxome
$890
Mitochondrial Complex V Deficiency Panel (Nuclear Genes)
Sequencing with CNV
PGxome
$890
Mitochondrial Disorders Panel (Nuclear Genes Only)
Sequencing with CNV
PGxome
$1490
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Panel
Sequencing with CNV
PGxome
$890
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Panel
Sequencing with CNV
PGxome
$890
Mucopolysaccharidosis Type III Panel
Sequencing with CNV
PG-Select
$640
Multiple Epiphyseal Dysplasia Panel
Sequencing with CNV
PGxome
$1070
Nemaline Myopathy Panel
Sequencing with CNV
PGxome
$890
Neonatal Crisis Panel
Sequencing with CNV
PGxome
$1890
Neonatal Respiratory Distress Panel
Sequencing with CNV
PGxome
$930
Nephrolithiasis and Nephrocalcinosis Panel
Sequencing with CNV
PGxome
$890
Nephronophthisis and Senior-Loken Syndrome Panel
Sequencing with CNV
PGxome
$1070
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Panel
Sequencing with CNV
PGxome
$990
Neuroblastoma Panel
Sequencing with CNV
PGxome
$930
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Panel
Sequencing with CNV
PGxome
$890
Neurofibromatosis (NF) Type 1 and Legius Syndrome Panel
Sequencing with CNV
PGxome
$1100
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Panel
Sequencing with CNV
PGxome
$890
Neuronal Ceroid Lipofuscinoses (Batten Disease) Panel
Sequencing with CNV
PGxome
$890
Niemann-Pick Disease Type C Panel
Sequencing with CNV
PG-Select
$640
Non-Immune Hydrops Fetalis Panel
Sequencing with CNV
PGxome
$1240
Non-Syndromic Monogenic Obesity Panel
Sequencing with CNV
PG-Select
$640
Nonsyndromic Congenital Heart Disease Panel
Sequencing with CNV
PGxome
$1070
Noonan Spectrum Disorders/RASopathies Panel
Sequencing with CNV
PG-Select
$640
Oculocutaneous Albinism (OCA) Panel
Sequencing with CNV
PGxome
$890
Omenn Syndrome Panel
Sequencing with CNV
PGxome
$890
Opitz G/BBB Syndrome Panel
Sequencing with CNV
PGxome
$1100
Optic Atrophy Panel
Sequencing with CNV
PGxome
$890
Organic Aciduria Panel
Sequencing with CNV
PGxome
$930
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Panel
Sequencing with CNV
PGxome
$960
Osteogenesis Imperfecta Panel
Sequencing with CNV
PGxome
$890
Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Panel
Sequencing with CNV
PGxome
$1140
Overgrowth and Macrocephaly Syndromes Panel
Sequencing with CNV
PGxome
$990
Paget Disease of Bone (PDB) Panel
Sequencing with CNV
PGxome
$890
Pan Cardiomyopathy Panel
Sequencing with CNV
PGxome
$1030
Pancreatic Cancer Panel
Sequencing with CNV
PG-Select
$540
Parkinson Disease and Parkinsonism Panel
Sequencing with CNV
PGxome
$990
Parkinson Disease Panel
Sequencing with CNV
PGxome
$890
Pediatric Cancer Panel
Sequencing with CNV
PG-Select
$590
Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Panel
Sequencing with CNV
PGxome
$890
Periodic Fever Syndromes Panel
Sequencing with CNV
PGxome
$890
Peroxisomal Disorders Panel
Sequencing with CNV
PGxome
$1030
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Panel
Sequencing with CNV
PGxome
$890
Polycystic Liver Disease (PLD) Panel
Sequencing with CNV
PGxome
$1290
Polydactyly and Syndactyly Panel
Sequencing with CNV
PGxome
$1530
Polydactyly Panel
Sequencing with CNV
PGxome
$1630
Pontocerebellar Hypoplasia Panel
Sequencing with CNV
PGxome
$890
Porphyria Panel
Sequencing with CNV
PGxome
$890
Premature Ovarian Failure (POF) Panel
Sequencing with CNV
PGxome
$890
Primary Aldosteronism Panel
Sequencing with CNV
PGxome
$890
Primary Antibody Deficiency Panel
Sequencing with CNV
PGxome
$890
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Panel
Sequencing with CNV
PGxome
$930
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Panel
Sequencing with CNV
PGxome
$890
Primary Hyperoxaluria Panel
Sequencing with CNV
PG-Select
$640
Primary Microcephaly, Autosomal Recessive, Panel
Sequencing with CNV
PGxome
$890
Primary Periodic Paralysis Panel
Sequencing with CNV
PGxome
$890
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Panel
Sequencing with CNV
PGxome
$890
Propionic Acidemia Panel
Sequencing with CNV
PG-Select
$640
Prostate Cancer Panel
Sequencing with CNV
PG-Select
$540
Pseudohypoaldosteronism Type I Panel
Sequencing with CNV
PGxome
$890
Pseudohypoaldosteronism Type II Panel
Sequencing with CNV
PGxome
$890
Pulmonary Arterial Hypertension (PAH) Panel
Sequencing with CNV
PGxome
$890
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel
Sequencing with CNV
PGxome
$890
Pure Hereditary Spastic Paraplegia Panel
Sequencing with CNV
PGxome
$890
Pyruvate Dehydrogenase Complex Deficiency Panel
Sequencing with CNV
PGxome
$930
Renal Cancer Panel
Sequencing with CNV
PG-Select
$540
Retinitis Pigmentosa (includes RPGR ORF15) Panel
Sequencing with CNV
PGxome
$1270
Rett Syndrome, Angelman Syndrome and Variant Syndromes Panel
Sequencing with CNV
PGxome
$890
Rotor Syndrome Panel
Sequencing with CNV
PGxome
$890
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Panel
Sequencing with CNV
PGxome
$890
Schwannomatosis Panel
Sequencing with CNV
PGxome
$890
Septo-optic Dysplasia Spectrum Panel
Sequencing with CNV
PGxome
$930
Severe Combined Immunodeficiency (SCID) Panel
Sequencing with CNV
PGxome
$890
Severe Congenital Neutropenia Panel
Sequencing with CNV
PGxome
$890
Short QT Syndrome Panel
Sequencing with CNV
PGxome
$890
Short Rib Skeletal Dysplasia Panel
Sequencing with CNV
PGxome
$990
Sitosterolemia Panel
Sequencing with CNV
PGxome
$890
Skeletal Disorders and Joint Problems Panel
Sequencing with CNV
PGxome
$1790
Skin and Connective Tissue Disorders Panel
Sequencing with CNV
PGxome
$990
Spherocytosis/Elliptocytosis Panel
Sequencing with CNV
PGxome
$890
Spondylocostal Dysostosis Panel
Sequencing with CNV
PGxome
$960
Stargardt Disease (STGD) and Macular Dystrophies Panel
Sequencing with CNV
PGxome
$890
Sterol Disorders Panel
Sequencing with CNV
PGxome
$890
Stickler Syndrome Panel
Sequencing with CNV
PGxome
$960
Stuttering Panel
Sequencing with CNV
PGxome
$890
Sudden Cardiac Arrest Panel
Sequencing with CNV
PGxome
$930
Syndactyly Panel
Sequencing with CNV
PGxome
$1690
Thrombocytopenia Panel
Sequencing with CNV
PGxome
$930
Thrombocytopenia Panel - Expanded
Sequencing with CNV
PGxome
$930
Tooth Agenesis Panel
Sequencing with CNV
PGxome
$890
Top 99 Genetic Causes of Developmental Delay Panel
Sequencing with CNV
PGxome
$990
Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller Syndrome/Acrofacial Dysostosis, Nagar Type Panel
Sequencing with CNV
PGxome
$890
Tuberous Sclerosis Complex (TSC) Panel
Sequencing with CNV
PG-Select
$540
Type VI-Related Collagenopathy Panel
Sequencing with CNV
PGxome
$890
Tyrosinemia Panel
Sequencing with CNV
PGxome
$890
Urea Cycle Disorders Panel
Sequencing with CNV
PGxome
$890
Usher Syndrome Panel
Sequencing with CNV
PGxome
$890
VACTERL Association and Related Disorders Panel
Sequencing with CNV
PGxome
$1170
Van der Woude Syndrome Panel
Sequencing with CNV
PGxome
$890
Waardenburg Syndrome Panel
Sequencing with CNV
PGxome
$890
Warburg Micro Syndrome Panel
Sequencing with CNV
PGxome
$890
Wilms Tumor Panel
Sequencing with CNV
PGxome
$890
Wolfram Syndrome Panel
Sequencing with CNV
PGxome
$890
X-Linked Intellectual Disability Panel
Sequencing with CNV
PGxome
$1290
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Panel
Sequencing with CNV
PGxome
$1170
Xeroderma Pigmentosum (XP) Panel
Sequencing with CNV
PGxome
$890
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
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