Test Descriptions Found:


Test Available Sequencing Del/Dup Other
3-Methylcrotonyl-CoA Carboxylase Deficiency Panel$890.00
Achromatopsia (ACHM) Panel$890.00
Acute/Neurovisceral Porphyria Panel$890.00
Adams-Oliver Syndrome Panel$890
Agammaglobulinemia Panel$890
Agnathia-Otocephaly Complex Panel$890.00
Aicardi-Goutières Syndrome Panel$890.00
Alagille Syndrome Panel$890.00
Alport Syndrome Panel$890
Ambiguous Genitalia Panel$990
Amelogenesis Imperfecta Panel$890.00
Amyotrophic Lateral Sclerosis (ALS) Panel$840
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel$930
Anterior Segment Dysgenesis Disorders Panel$1670
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)/Dysplasia Panel$890
Ataxia with Oculomotor Apraxia Panel$890.00
Autism Spectrum Disorders (ASD) Panel$1280
Autoimmune Lymphoproliferative Syndrome/ALPS Panel$890.00
Autosomal Dominant Polycystic Kidney Disease (ADPKD) Panel$1290
Autosomal Dominant Retinitis Pigmentosa (RP) Panel$890.00
Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Panel$1290
Autosomal Recessive Polycystic Kidney Disease (ARPKD) Panel$890.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Panel$890.00
Autosomal Recessive Retinitis Pigmentosa (RP) Panel$1030.00
Axenfeld-Rieger Syndrome Panel$990.00
Bardet-Biedl Syndrome (BBS) Panel$890.00
Bleeding Disorders Panel$1060
Bone Fragility and Fracture Panel$1190
Brain Malformation Panel$890
Branchiootorenal Syndrome Panel$890.00
Brittle Cornea Syndrome Panel$890.00
Brown-Vialetto-van Laere Syndrome and Fazio-Londe Disease Panel$890
Brugada Syndrome Panel$890.00
CADASIL and CARASIL Panel$960.00
Catecholaminergic Polymorphic Ventricular Tachycardia Panel$890.00
Cerebral Small Vessel Disease Panel$1140
Charcot-Marie-Tooth (CMT) - Axonal Neuropathy Panel$890.00
Charcot-Marie-Tooth (CMT) - Comprehensive Panel$890.00
Charcot-Marie-Tooth (CMT) - Demyelinating Neuropathy Panel$890.00
Cholestasis Panel$990
Chromosomal Instability Syndromes Panel$890.00
Chronic Granulomatous Disease Panel$890.00
Chronic Pancreatitis Panel$1100.00
Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel$930
Chronic/Cutaneous Porphyria Panel$890.00
Ciliopathy Panel$1090
Cleft Lip/Cleft Palate Panel$1240
Coagulation Factor Deficiency Panel$890
Coenzyme Q10 Ubiquinone Deficiency Panel$890.00
Coffin-Siris Syndrome Panel$1100
Combined Pituitary Hormone Deficiency (CPHD) Panel$930.00
Common Variable Immune Deficiency (CVID) Panel$890
Complex Hereditary Spastic Paraplegia Panel$1100
Comprehensive Brain Malformation Panel$1490
Comprehensive Cardiac Arrhythmia Panel$1030.00
Comprehensive Cardiology Panel$1310.00
Comprehensive Cataracts Panel$1310
Comprehensive Congenital Heart Disease Panel$1490
Comprehensive Epilepsy and Seizure Panel$1490
Comprehensive Inherited Kidney Diseases Panel$1490
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Panel$1740
Comprehensive Neuromuscular Panel$1310
Comprehensive Neuropathy Panel$990.00
Comprehensive Ocular Disorders (includes RPGR ORF15) Panel$1990
Comprehensive Vitreoretinopathy Panel$890
Cone-Rod Dystrophy Panel$890.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel$990
Congenital Adrenal Hyperplasia (CAH) Panel$1940
Congenital Anomalies of the Gastrointestinal Tract Panel$1350
Congenital Cataracts Panel$990.00
Congenital Central Hypoventilation Syndrome (CCHS) Panel$990.00
Congenital Diaphragmatic Hernia Panel$990
Congenital Diarrhea and Enteropathies Panel$1420
Congenital Disorders of Glycosylation (CDG) Panel$890.00
Congenital Disorders of Glycosylation (CDG) Panel (Types Ia, Ib, and Ic)$890.00
Congenital Disorders of Glycosylation (CDG) Panel (Types Id, Ie, If, Ig, Ih, Ii)$890.00
Congenital Dyserythropoietic Anemia Panel$890.00
Congenital Fibrinogen Deficiency Panel$890.00
Congenital Generalized Lipodystrophy (CGL) Panel$890
Congenital Hyperinsulinism Panel$930.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel$890.00
Congenital Ichthyosis and Related Disorders Panel$890.00
Congenital Limb Malformation Panel$1030
Congenital Muscular Dystrophy (CMD) Panel$890
Congenital Myasthenic Syndrome Panel$890
Congenital Myopathy Panel$930
Congenital Stationary Night Blindness Panel$930.00
Connective Tissue Disorders Panel$1310
Corneal Dystrophies Panel$890.00
Cornelia de Lange Syndrome (CdLS) Panel$960.00
Cornelia de Lange Syndrome (CdLS) and Cornelia de Lange Syndrome-Related Disorders Panel$930
Craniosynostosis and Related Disorders Panel$890.00
Cystinuria Panel$890.00
Dementia Panel$890
Dent Disease Panel$890.00
Diamond-Blackfan Anemia Panel$1030.00
Dilated Cardiomyopathy Panel$1030
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel$960
Disorders of Copper Metabolism Panel$890
Disorders of Fatty Acid Oxidation (FAOD) Panel$890
Disorders of Folate Metabolism and Transport Panel$890.00
Disorders of Sex Development (DSD) Panel$1240
Disorders of Sex Development (DSD) and Infertility Panel$1490
Distal Arthrogryposis Panel$890.00
Distal Hereditary Motor Neuropathy Panel$890.00
Distal Myopathy Panel$890
Distal Renal Tubular Acidosis Panel$890.00
Dyskeratosis Congenita (DC) and Related Disorders Panel$890
Dystonia Panel$890
Dystroglycan-Related Congenital Muscular Dystrophy Panel$890
Early Infantile Epileptic Encephalopathy Panel$1240
Ectodermal Dysplasia Panel$890.00
Ehlers-Danlos Syndromes (EDS) Panel$1340
Ellis-van Creveld Syndrome (EVC) Panel$890.00
Epidermolysis Bullosa (EBS) and Related Disorders Panel$890.00
Episodic Ataxia Panel$1070
Episodic Pain Syndrome Panel$890.00
Facial Dysostosis Related Disorders Panel$890.00
Familial Atrial Fibrillation Syndrome Panel$890.00
Familial Chylomicronemia Panel$890
Familial Hemiplegic Migraine and Alternating Hemiplegia of Childhood Panel$890
Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel$890.00
Familial Hypercholesterolemia (FH) Panel$890.00
Familial Hypocalciuric Hypercalcemia (FHH) Panel$890.00
Familial Partial Lipodystrophy (FPLD) Panel$890
Fanconi Anemia Panel$1380
Female Infertility Panel$1310
Fetal Akinesia Deformation Sequence (FADS)/Lethal Multiple Pterygium Syndrome Panel$890.00
Fetal Concerns Panel$890.00
Flecked Retina Disorder Panel$890.00
Focused Inherited Retinal Disorders Panel$890
Fraser Syndrome Panel$890.00
Galactosemia Panel$890
Galloway-Mowat Syndrome (GAMOS) Panel$960
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Panel$2150.00
Generalized, Partial and Atypical Lipodystrophy Panel$930
Glanzmann's Thrombasthenia Panel$890.00
Glaucoma Panel$960
Glutaric Acidemia Type II Panel$890.00
Glycine Encephalopathy Panel$960
Glycogen Storage Disease (GSD) and Disorders of Glucose Metabolism Panel$1030
Hereditary Cystic Kidney Diseases Panel$1290
Hereditary Hearing Loss and Deafness Panel$1290
Hereditary Hemochromatosis Panel$890.00
Hereditary Hemolytic Anemia Panel$890
Hereditary Hemorrhagic Telangiectasia (HHT)/Osler-Weber-Rendu Disease, and Capillary Malformation-Arteriovenous Malformation Syndrome (CM)-AVM Panel$890
Hereditary Multiple Osteochondromas (HMO) Panel$890.00
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) Panel$1040
Hereditary Sensory and Autonomic Neuropathy Panel$960.00
Hereditary Spastic Paraplegia Comprehensive Panel$1310
Hereditary Xerocytosis Panel$890.00
Hermansky-Pudlak Syndrome (HPS) Panel$890
Heterotaxy, Situs Inversus and Kartagener's Syndrome Panel$890
Hirschsprung Disease (Non-syndromic) Panel$890.00
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel$890.00
Homocystinuria Panel$890.00
Hydrocephalus Panel$890
Hydroxyglutaric Aciduria Panel$890.00
Hyper IgE Syndrome Panel$890.00
Hyper IgM Syndrome Panel$890.00
Hyperammonemia Panel$1030
Hypermethioninemia Panel$890
Hypertrophic Cardiomyopathy Panel$890
Hypoglycemia Panel - Expanded$1280
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel$930.00
Hypomagnesemia Panel$930.00
Hypoparathyroidism Panel$960.00
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Panel$890
Hypopigmentation Panel$890
Hypospadias Panel$990
Idiopathic Basal Ganglia Calcification Panel$890.00
Inborn Errors of Immunity/Primary Immunodeficiency (PID) Panel$1490
Infantile Liver Failure Syndrome Panel$890.00
Infantile Myofibromatosis Panel$890.00
Infantile Parkinsonism-Dystonia Panel$890
Inherited Bone Marrow Failure Panel$1490
Inherited Glycosylphosphatidylinositol Biosynthesis Defects (IGDs) Panel$890
Inherited Platelet Function Disorder Panel$930
Intellectual Disability, Epilepsy, and Autism (IDEA) Panel$1690
Interstitial Lung Disease Panel$1210.00
Isolated Polycystic Liver Disease (PCLD) Panel$930
Joubert and Meckel-Gruber Syndromes Panel$890.00
Kabuki Syndrome Panel$1070
Kallmann Syndrome (KS) Panel$1030.00
Kenny-Caffey Syndrome Panel$890.00
Klippel-Feil Syndrome Panel$930
Leber Congenital Amaurosis Panel$890.00
Left Ventricular Noncompaction (LVNC) Panel$890.00
Leigh and Leigh-Like Syndrome Panel (Nuclear Genes Only)$990.00
Leukodystrophy and Leukoencephalopathy Panel$1240
Leukodystrophy and Leukoencephalopathy, Adult Onset Panel $890
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Panel$890.00
Limb Girdle Muscular Dystrophy (LGMD) Panel$890
Lissencephaly Panel$1070
Long QT Syndrome Panel$890
Lymphedema Panel$1140
Lysosomal Storage Disorders Panel$1280
Male Infertility Panel$1380.00
Malignant Hyperthermia Susceptibility Panel$890.00
Marfan Syndrome and Related Aortopathies Panel (Exome)$890
Maturity Onset Diabetes of the Young (MODY) Panel$890
Medulloblastoma Panel$890
Meier-Gorlin Syndrome Panel$890.00
Mendelian Susceptibility to Mycobacterial Disease Panel$930
Metabolic Hypoglycemia Panel$960
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel$1130
Methylmalonic Acidemia Panel$930.00
Methylmalonic Aciduria and Homocystinuria Panel$960
Microphthalmia/Anophthalmia/Coloboma Panel$1090
Mitochondrial Complex I Deficiency Panel (Nuclear Genes)$890.00
Mitochondrial Complex II Deficiency Panel$1090
Mitochondrial Complex III Deficiency Panel (Nuclear Genes)$890.00
Mitochondrial Complex IV Deficiency Panel (Nuclear Genes)$890
Mitochondrial Complex V Deficiency Panel (Nuclear Genes)$890.00
Mitochondrial Disorders Panel (Nuclear Genes Only)$1530
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Panel$890.00
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Panel$890.00
Monogenic Diabetes Panel$1090
Multiple Epiphyseal Dysplasia Panel$1070
Nemaline Myopathy Panel$890.00
Neonatal Crisis Panel$1890
Neonatal Respiratory Distress Panel$930
Nephrolithiasis and Nephrocalcinosis Panel$890.00
Nephronophthisis and Senior-Loken Syndrome Panel$1070.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Panel$990
Neuroblastoma Panel$930.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Panel$890
Neurofibromatosis (NF) Type 1 and Legius Syndrome Panel$1100.00
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Panel$890
Neuronal Ceroid Lipofuscinoses (Batten Disease) Panel$890.00
Non-Immune Hydrops Fetalis Panel$1240
Nonsyndromic Congenital Heart Disease Panel$1070
Oculocutaneous Albinism (OCA) Panel$890
Omenn Syndrome Panel$890
Opitz G/BBB Syndrome Panel$1100.00
Optic Atrophy Panel$890.00
Organic Aciduria Panel$930
Osteogenesis Imperfecta Panel$890
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Panel$960
Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Panel$1140
Overgrowth and Macrocephaly Syndromes Panel$990
Paget Disease of Bone (PDB) Panel$890.00
Pan Cardiomyopathy Panel$1030.00
Parkinson Disease Panel$890.00
Parkinson Disease and Parkinsonism Panel $990
Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Panel$890.00
Periodic Fever Syndromes Panel$890.00
Peroxisomal Disorders Panel$1030
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Panel$890.00
Polycystic Liver Disease (PLD) Panel$1290
Polydactyly Panel$1630
Polydactyly and Syndactyly Panel$1530
Pontocerebellar Hypoplasia Panel$890.00
Porphyria Panel$890.00
Premature Ovarian Failure (POF) Panel$890.00
Primary Aldosteronism Panel$890
Primary Antibody Deficiency Panel$890
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Panel$890
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Panel$930
Primary Microcephaly, Autosomal Recessive, Panel$890.00
Primary Periodic Paralysis Panel$890.00
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Panel$890.00
Pseudohypoaldosteronism Type I Panel$890.00
Pseudohypoaldosteronism Type II Panel$890.00
Pulmonary Arterial Hypertension (PAH) Panel$890
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel$890.00
Pure Hereditary Spastic Paraplegia Panel$890
Pyruvate Dehydrogenase Complex Deficiency Panel$930
Retinitis Pigmentosa (includes RPGR ORF15) Panel$1270.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Panel$890
Rotor Syndrome Panel$890.00
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Panel$890
Schwannomatosis Panel$890.00
Septo-optic Dysplasia Spectrum Panel$930
Severe Combined Immunodeficiency (SCID) Panel$890
Severe Congenital Neutropenia Panel$890.00
Short QT Syndrome Panel$890.00
Short Rib Skeletal Dysplasia Panel$990.00
Sitosterolemia Panel$890.00
Skeletal Disorders and Joint Problems Panel$1790
Skin and Connective Tissue Disorders Panel$990
Spherocytosis/Elliptocytosis Panel$890
Spondylocostal Dysostosis Panel$960
Stargardt Disease (STGD) and Macular Dystrophies Panel$890
Sterol Disorders Panel$890
Stickler Syndrome Panel$960
Strabismus Syndrome or Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Panel$890
Stuttering Panel$890
Sudden Cardiac Arrest Panel$930.00
Syndactyly Panel$1690
Thrombocytopenia Panel$930.00
Thrombocytopenia Panel - Expanded$930
Tooth Agenesis Panel$890.00
Top 99 Genetic Causes of Developmental Delay Panel$990
Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller Syndrome/Acrofacial Dysostosis, Nagar Type Panel$890
Type VI-Related Collagenopathy Panel$890.00
Tyrosinemia Panel$890
Urea Cycle Disorders Panel$890.00
Usher Syndrome Panel$890.00
VACTERL Association and Related Disorders Panel$1130
Van der Woude Syndrome Panel$890
Waardenburg Syndrome Panel$890.00
Warburg Micro Syndrome Panel$890.00
Wilms Tumor Panel$890
Wolfram Syndrome Panel$890.00
X-Linked Intellectual Disability Panel$1290
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Panel$1170.00
Xeroderma Pigmentosum (XP) Panel$890.00

All of our prices are as listed. No strings attached.



Available Test Methods