Search Results

Test Descriptions Found:

913

Searched:

19

Panel(s) Available Method Price
Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Id, Ie, If, Ig, Ih, Ii) with CNV Detection
Exome with CNV
$890.00
Paget Disease of Bone (PDB) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Ia, Ib, and Ic) with CNV Detection
Exome with CNV
$960.00
Rotor Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Agnathia-Otocephaly Complex Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Left Ventricular Noncompaction (LVNC) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Leber Congenital Amaurosis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Flecked Retina Disorder Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection
Exome with CNV
$1100.00
Hypoparathyroidism Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection
Exome with CNV
$930.00
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection
Exome with CNV
$990.00
Corneal Dystrophies Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Mitochondrial Complex II Deficiency Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Mitochondrial Complex V Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)
Exome with CNV
$890.00
Hypomagnesemia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)
Exome with CNV
$890.00
Fetal Concerns Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Primary Aldosteronism Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)
Exome with CNV
$890.00
Brittle Cornea Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Neuroblastoma Sequencing Panel with CNV Detection
Exome with CNV
$1000.00
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)
Exome with CNV
$890.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection
Exome with CNV
$1070.00
Autism Spectrum Disorders and Intellectual Disability (ASD-ID) Comprehensive Sequencing Panel with CNV Detection
Exome with CNV
$2490.00
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Dystonia Sequencing Panel with CNV Detection
Exome with CNV
$1380.00
Comprehensive Cardiology Sequencing Panel with CNV Detection
Exome with CNV
$1310.00
Tooth Agenesis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Sudden Cardiac Arrest Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Amelogenesis Imperfecta Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Dilated Cardiomyopathy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Pan Cardiomyopathy Sequencing Panel with CNV Detection
Exome with CNV
$990.00
Interstitial Lung Disease Sequencing Panel with CNV Detection
Exome with CNV
$1210.00
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection
Exome with CNV
$1490.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$930.00
Agammaglobulinemia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hyper IgM Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Diamond-Blackfan Anemia Sequencing Panel with CNV Detection
Exome with CNV
$1070.00
Autism Spectrum Disorders Sequencing Panel with CNV Detection
Exome with CNV
$1240.00
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection
Exome with CNV
$1240.00
Congenital Limb Malformation Sequencing Panel with CNV Detection
Exome with CNV
$990.00
Neonatal Crisis Sequencing Panel with CNV Detection
Exome with CNV
$2490.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection
Exome with CNV
$1280.00
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection
Exome with CNV
$1240.00
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection
Exome with CNV
$990.00
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection
Exome with CNV
$990.00
Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Severe Congenital Neutropenia Sequencing Panel with CNV Detection
Exome with CNV
$1240.00
3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Lymphedema Sequencing Panel with CNV Detection
Exome with CNV
$960.00
CADASIL and CARASIL Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Ellis-van Creveld Syndrome (EVC) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hereditary Multiple Osteochondromas (HMO) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hereditary Xerocytosis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Infantile Myofibromatosis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Schwannomatosis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Sitosterolemia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Ataxia with Oculomotor Apraxia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Periodic Fever Syndromes Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Long QT Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Primary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection
Exome with CNV
$960.00
Kallmann Syndrome (KS) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Porphyria Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Cornelia de Lange Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hereditary Hemochromatosis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection
Exome with CNV
$930.00
Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Spherocytosis/Elliptocytosis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Short QT Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hirschsprung Disease (Non-syndromic) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Coffin-Siris Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Spondylocostal Dysostosis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Episodic Pain Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Primary Periodic Paralysis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Acute/Neurovisceral Porphyria Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Chronic Granulomatous Disease Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Fraser Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Kabuki Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Type VI-Related Collagenopathy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Warburg Micro Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Craniosynostosis and Related Disorders Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Stuttering Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Meier-Gorlin Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Ectodermal Dysplasia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Waardenburg Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel with CNV Detection
Exome with CNV
$1140.00
Usher Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Brugada Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Familial Hemiplegic Migraine Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Optic Atrophy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Wolfram Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Chronic Pancreatitis Sequencing Panel with CNV Detection
Exome with CNV
$1140.00
Disorders of Folate Metabolism and Transport Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Glutaric Acidemia Type II Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Homocystinuria Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Urea Cycle Disorders Sequencing Panel with CNV Detection
Exome with CNV
$1170.00
Ciliopathy Sequencing Panel with CNV Detection
Exome with CNV
$1130.00
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection
Exome with CNV
$990.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$1030.00
Glaucoma Sequencing Panel with CNV Detection
Exome with CNV
$930.00
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection
Exome with CNV
$1100.00
Congenital Cataracts Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Autosomal Dominant Polycystic Kidney Disease (ADPKD) Sequencing Panel with CNV Detection
Exome with CNV
$1590.00
Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Malignant Hyperthermia Susceptibility Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Oculocutaneous Albinism Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Peroxisomal Disorders Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hyperammonemia Sequencing Panel with CNV Detection
Exome with CNV
$930.00
Autosomal Recessive Polycystic Kidney Disease (ARPKD) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Sequencing Panel with CNV Detection
Exome with CNV
$1590.00
Cone-Rod Dystrophy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection
Exome with CNV
$960.00
Achromatopsia (ACHM) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Parkinson Disease Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection
Exome with CNV
$990.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection
Exome with CNV
$930.00
Cystinuria Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Dent Disease Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Alagille Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Infantile Liver Failure Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Kenny-Caffey Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Branchiootorenal Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Glycine Encephalopathy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Isolated Polycystic Liver Disease (PCLD) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hydrocephalus Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Congenital Generalized Lipodystrophy (CGL) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Distal Renal Tubular Acidosis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Pseudohypoaldosteronism Type I Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Cholestasis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Pseudohypoaldosteronism Type II Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hypermethioninemia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hyper IgE Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Omenn Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Polycystic Liver Disease (PLD) Sequencing Panel with CNV Detection
Exome with CNV
$1560.00
Glanzmann's Thrombasthenia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Congenital Fibrinogen Deficiency Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Familial Hypercholesterolemia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hermansky-Pudlak Syndrome (HPS) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Coagulation Factor Deficiency Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Platelet Function Disorder Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Thrombocytopenia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded
Exome with CNV
$930.00
Congenital Hyperinsulinism Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Bleeding Disorders Sequencing Panel with CNV Detection
Exome with CNV
$1030.00
Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Fanconi Anemia Sequencing Panel with CNV Detection
Exome with CNV
$1170.00
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Aicardi-Goutières Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Distal Arthrogryposis Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Nemaline Myopathy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Comprehensive Neuropathy Sequencing Panel with CNV Detection
Exome with CNV
$1030.00
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection
Exome with CNV
$960.00
Organic Aciduria Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection
Exome with CNV
$1000.00
Metabolic Hypoglycemia Sequencing Panel with CNV Detection
Exome with CNV
$1070.00
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection
Exome with CNV
$1170.00
Methylmalonic Acidemia Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Methylmalonic Aciduria and Homocystinuria Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Hydroxyglutaric Aciduria Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection
Exome with CNV
$1530.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection
Exome with CNV
$1240.00
Bardet-Biedl Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection
Exome with CNV
$1630.00
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection
Exome with CNV
$990.00
Female Infertility Sequencing Panel with CNV Detection
Exome with CNV
$1230.00
Male Infertility Sequencing Panel with CNV Detection
Exome with CNV
$1380.00
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection
Exome with CNV
$1280.00
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection
Exome with CNV
$1690.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection
Exome with CNV
$960.00
Hypopigmentation Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Sequencing Panel with CNV Detection
Exome with CNV
$2010.00
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection
Exome with CNV
$1280.00
Chromosomal Instability Syndromes Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Opitz G/BBB Syndrome Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection
Exome with CNV
$960.00
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection
Exome with CNV
$890.00
Ambiguous Genitalia Sequencing Panel with CNV Detection
Exome with CNV
$990
Hypospadias Sequencing Panel with CNV Detection
Exome with CNV
$990
Xeroderma Pigmentosum Sequencing Panel with CNV Detection
Exome with CNV
$890.00
PGxome Custom Sequencing with CNV

Looking for a specific gene but can't find it in our test descriptions? Try checking our PGxome Custom Panels (Test #6000) tool

Single Gene Test(s) Available Method Price
Dilated Cardiomyopathy and Limb-Girdle Muscular Dystrophy Type 2F via SGCD Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Barth Syndrome via TAZ Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Hypertrophic Cardiomyopathy via MYL2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Hypertrophic Cardiomyopathy via MYL3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via TPM1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Hypertrophic Cardiomyopathy and Related Disorders via TNNI3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Hypertrophic Cardiomyopathy and Related Disorders via TNNT2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Hypertrophic Cardiomyopathy via TNNC1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Heterotaxy, Visceral 5 (HTX5) via NODAL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
X-linked Heterotaxy (HTX1) via ZIC3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$590.00
Papillon-Lefevre Syndrome (PLS) via CTSC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$770.00
Dentinogenesis Imperfecta (DGI) and Dentin Dysplasia (DD) via DSPP Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$680
Hermansky-Pudlak Syndrome Type 8 (HPS8) via BLOC1S3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$440
Griscelli Syndrome-Type 2 (GS2) via RAB27A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Familial Hemophagocytic Lymphohistiocytosis-Type 2 (FHL2) via PRF1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$590.00
Lymphedema-Distichiasis Syndrome via FOXC2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$560.00
Lymphedema with Hypotrichosis and Telangiectasia via SOX18 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$590.00
Hereditary Lymphedema via GJC2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Bernard-Soulier Syndrome via GP1BA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Bernard-Soulier Syndrome via GP1BB Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Severe Congenital Neutropenia via GFI1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$670.00
Short Chain Acyl-CoA Dehydrogenase Deficiency via ACADS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$730.00
ALS2-Related Disorders via ALS2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1650.00
Trimethylaminuria via FMO3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Paroxysmal Paralytic Rhabdomyolysis via LPIN1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1080.00
Glycogen Storage Disease Type IX via PHKG2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Fructose-1,6-Bisphosphatase Deficiency via FBP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Congenital Disorders of Glycosylation, Type Ig (CDG Ig) via ALG12 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Congenital Disorders of Glycosylation, Type Ii (CDG Ii) via ALG2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Congenital Disorders of Glycosylation, Type Ih (CDG Ih) via ALG8 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$810
Congenital Disorders of Glycosylation, Type If (CDG If) via MPDU1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Congenital Disorders of Glycosylation, Type Id (CDG Id) via ALG3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Farber Lipogranulomatosis via ASAH1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Knobloch Syndrome, Type I via COL18A1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1750.00
RHO-Related Disorders via RHO Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Retinitis Pigmentosa via IMPDH1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Leber Congenital Amaurosis via CRX Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Retinitis Pigmentosa via PRPF31 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
TULP1-Associated Disorders via TULP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Retinitis Pigmentosa via CNGB1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1340.00
Nephronophthisis via GLIS2/NPHP7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Nephronophthisis via NEK8/NPHP9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Nephronophthisis-Like Nephropathy-1 (NPHPL1) via XPNPEP3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$790.00
X-linked Retinitis Pigmentosa (XLRP) via RP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$590.00
Robinow Syndrome and Autosomal Recessive Brachydactyly, Type B1 via ROR2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Nemaline Myopathy 7 via CFL2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via TNNI2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Distal Myopathy 2 via MATR3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Male Infertility with Large-Headed Spermatozoa via AURKC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Primary Ciliary Dyskinesia (PCD) via RSPH4A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$690.00
Primary Ciliary Dyskinesia (PCD) via RSPH9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Primary Ciliary Dyskinesia (PCD) via NME8 (TXNDC3) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$890.00
Primary Ciliary Dyskinesia (PCD) via DNAL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$690.00
Myopathy, Congenital via TPM3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
α-Actin (Skeletal Muscle Form)-Related Myopathy via ACTA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Myofibrillar Myopathy via CRYAB Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$440
Myofibrillar Myopathy via DES Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Myotilinopathy via MYOT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Dystroglycanopathy via DAG1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Restrictive Dermopathy and Mandibuloacral Dysplasia with Type B Lipodystrophy via ZMPSTE24 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via CHRNA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via SLC52A3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$630.00
Congenital Disorders of Glycosylation, Type Ie (CDG Ie) via DPM1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy via DPM3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Holoprosencephaly-3 (Autosomal Dominant Nonsyndromic) via SHH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$670.00
Holoprosencephaly-2 (Autosomal Dominant, Nonsyndromic) via SIX3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$560.00
Autosomal Dominant, Non-Syndromic Holoprosencephaly via GAS1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$440.00
Myofibrillar Myopathy, Childhood Onset via BAG3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
3-Methylcrotonyl-CoA Carboxylase Deficiency via MCCC1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Nemaline Myopathy With Cores (NEM6) via KBTBD13 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Autosomal Recessive Spinocerebellar Ataxia-10 via ANO10 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$860
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Retinitis Pigmentosa via PRPF8 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1750.00
Usher Syndrome Type 1 via USH1G Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Amyotrophic Lateral Sclerosis via UBQLN2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
NSDHL-Related Disorders via NSDHL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Xeroderma Pigmentosum via DDB2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Isolated Nonsyndromic Congenital Heart Defects via ZFPM2 (FOG2) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$930.00
Caveolinopathy via CAV3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$440
Severe Congenital Neutropenia and Cyclic Neutropenia via ELANE Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$560.00
Legius Syndrome via SPRED1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Isolated Nonsyndromic Congenital Heart Defects via GATA4 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$650
Junctional Epidermolysis Bullosa via COL17A1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$2110.00
Ventricular Septal Defects, Tetralogy of Fallot via FOXH1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$480
Miller-Dieker Lissencephaly Syndrome via YWHAE Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Pulmonary Arterial Hypertension (PAH) via BMPR2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1130.00
Aarskog-Scott Syndrome via FGD1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$940
Camurati-Engelmann Disease (CED) via TGFB1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$690.00
Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1) via ARSE Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$790
Combined Pituitary Hormone Deficiency-4 (CPHD-4) via LHX4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Conradi-Hunermann syndrome via EBP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$560.00
Duane-Radial Ray Syndrome and Acro-Renal-Ocular Syndrome via SALL4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$730.00
IRF6-Related Disorders via IRF6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$670.00
Juvenile Paget Disease via TNFRSF11B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$560.00
Klippel-Feil Syndrome via GDF6 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Laron Syndrome/Pituitary Dwarfism II (Growth Hormone Insensitivity) via GHR Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$840
Meier-Gorlin Syndrome via ORC4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Meier-Gorlin Syndrome via ORC6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Metaphyseal Chondrodysplasia, Schmid Type (MCDS) via COL10A1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Short Stature with or without Partial Isolated Growth Hormone Deficiency via GHSR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Small Patella Syndrome via TBX4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL) via DDR2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$930.00
Spondylocostal Dysostosis via DLL3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Townes-Brocks Syndrome via SALL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$890.00
TP63-Related Disorders via TP63 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Tricho-Rhino-Phalangeal Syndrome Types I & III via TRPS1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$860.00
X-Linked Spondyloepiphyseal Dysplasia Tarda (SEDT) via TRAPPC2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$520.00
Cleidocranial Dysplasia (CCD) via RUNX2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$860.00
Retinitis Pigmentosa via CNGA1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$750
Holt-Oram Syndrome (HOS) via TBX5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Primary Microcephaly, Autosomal Recessive, via ASPM Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$2170.00
Primary Microcephaly, Autosomal Recessive, via CDK5RAP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1750.00
CENPJ-Related Disorders via CENPJ Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1060.00
Primary Microcephaly, Autosomal Recessive, via STIL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1130.00
Primary Microcephaly, Autosomal Recessive, via WDR62 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1430.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via ACTN2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1060.00
Hypertrophic Cardiomyopathy and Related Disorders via ACTC1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
FHL1-Myopathies via FHL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Nephrogenic Diabetes Insipidus (NDI) via AQP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via AVPR2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Walker-Warburg Syndrome via Glycosyltransferase-Like Domain-Containing Protein 2 (POMGNT2) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Heterotaxy and Conotruncal Heart Defects via GDF1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
GLI3-Related Disorders via GLI3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1020.00
Xeroderma Pigmentosum via POLH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Centronuclear Myopathy-3, Autosomal Dominant via MYF6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via CSRP3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Cystathioninuria via CTH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Walker-Warburg Syndrome via RXYLT1/TMEM5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Glutathione Synthetase Deficiency via GSS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Neurohypophyseal Diabetes Insipidus (NDI) via AVP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Epidermolysis Bullosa with Pyloric Atresia via ITGA6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1250.00
Ectodermal Dysplasia/Skin Fragility Syndrome via PKP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Epidermolysis Bullosa Simplex (EBS) via KRT5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via ALOX12B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via NIPAL4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via CYP4F22 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via BEST1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via ABCA12 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
2,670
Autosomal Recessive Congenital Ichthyosis (ARCI) via ALOXE3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via PNPLA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Aniridia via PAX6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Agnathia-Otocephaly Complex via PRRX1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Leber Congenital Amaurosis 4 (LCA4) via AIPL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Tropomyosin 2-Related Disorders via TPM2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Weaver Syndrome via EZH2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1090.00
Klippel-Feil Syndrome via MEOX1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Epidermolysis Bullosa Simplex (EBS) via KRT14 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Achondrogenesis Type 1A via TRIP11 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1650.00
Joubert Syndrome via TMEM138 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Spondyloenchondrodysplasia with Immune Dysregulation via ACP5 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Hyperglycemia and Hypoglycemia via GCK Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
RLBP1-Related Disorders via RLBP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Chronic Pancreatitis via Chymotrypsin C (CTRC) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Autosomal Dominant Retinitis Pigmentosa 31 (RP31) via TOPORS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Familial Amyloidosis via TTR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Retinitis Pigmentosa 38 (RP38) via MERTK Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1220.00
Meckel-Gruber syndrome via B9D1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Orotic Aciduria via UMPS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Autosomal Dominant Retinitis Pigmentosa 27 (RP27) and Autosomal Recessive Retinal Degeneration, Clumped Pigment Type via NRL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Autosomal Dominant Retinitis Pigmentosa 17 (RP17) via CA4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Ovarian Dysgenesis via BMP15 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Male and Female Infertility via FSHB Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$370
46,XX Disorder of Sex Development (DSD) via WNT4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Nail-Patella Syndrome via LMX1B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
DHH-related Disorders of Sex Development via DHH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Familial Amyloidosis via APOA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via GUCA1A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Autosomal Dominant Retinitis Pigmentosa 48 (RP48) via GUCA1B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
NR5A1-Related Disorders via NR5A1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Waardenburg Syndrome Types I and III via PAX3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
WFS1-Related Disorders via WFS1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Waardenburg Syndrome Types IIE and IVC via SOX10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Walker-Warburg Syndrome via B3GNT1(B4GAT1) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Dystroglycanopathy via GMPPB Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Bietti Crystalline Corneoretinal Dystrophy via CYP4V2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Branchiootorenal Syndrome via SIX5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Wolfram Syndrome Type 2 via CISD2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$440.00
Autosomal Recessive Isolated Ectopia Lentis-2 via ADAMTSL4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1190.00
SOX2-Related Ocular Disorders via SOX2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Waardenburg Syndrome Type IID via SNAI2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Hirschsprung Disease 3 (HSCR3) via GDNF Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Goldberg-Shprintzen Megacolon Syndrome via KIAA1279 (KIF1BP) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Cherubism via SH3BP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Renal Hypomagnesemia 5 via CLDN19 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Familial Amyloidosis (Finnish Type) via GSN Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1020.00
Primary Pigmented Nodular Adrenocortical Disease via PDE11A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1250.00
Renal Cysts and Diabetes Syndrome via HNF1B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Dubin-Johnson Syndrome via ABCC2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1500.00
Amelogenesis Imperfecta via WDR72 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1220.00
Spondylocostal Dysostosis via HES7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Popliteal Pterygium Syndrome 2, Lethal Type via RIPK4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Amelogenesis Imperfecta via FAM83H Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Focal Dermal Hypoplasia (FDH) via PORCN Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Severe Congenital Neutropenia (Dursun Syndrome) via G6PC3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via DSTYK Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$1020
NR0B1-Related Disorders via NR0B1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via SH2D1A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Amelogenesis Imperfecta via MMP20 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Amelogenesis Imperfecta via KLK4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Cone-Rod Dystrophy (CRD11) via RAX2 (Qrx) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
FRMD7-Associated X-linked Congenital Nystagmus 1 (NYS1) via FRMD7 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$940
Amelogenesis Imperfecta via AMELX Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$440
Protein C Deficiency via PROC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Chronic Hereditary Pancreatitis via CPA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via ATR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$2450.00
Familial Exudative Vitreoretinopathy 5 (FEVR5) via TSPAN12 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Antithrombin Deficiency via SERPINC1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Familial Exudative Vitreoretinopathy 1 (FEVR1) via FZD4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Amelogenesis Imperfecta via ENAM Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Amelogenesis Imperfecta via ODAPH (C4orf26) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Pelger-Huet Anomaly and Greenberg Skeletal Dysplasia via LBR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Pyruvate Kinase Deficiency with Hemolytic Anemia via PKLR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
X-linked Agammaglobulinemia via BTK Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$1100
Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via FOXL2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
X-linked Megalocornea 1 (MGC1) via CHRDL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Bartter Syndrome Type 2 via KCNJ1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Rotor Syndrome via SLCO1B1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Rotor Syndrome via SLCO1B3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
Hypoparathyroidism, Sensorineural Deafness and Renal Disease (HDR) via GATA3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
PITX2- Related Disorders via PITX2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
X-Linked Hyper IgM Syndrome via CD40LG Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome via CXCR4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Peters Plus Syndrome via B3GALTL/B3GLCT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1060.00
Mucopolysaccharidosis Type IVA / Morquio Type A Disease via GALNS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Primary Familial and Congenital Polycythemia (PFCP) via EPOR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Amelogenesis Imperfecta via DLX3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Parkinson's Disease, Early Onset via PARK7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
TGFBI-Associated Corneal Dystrophies via TGFBI Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1020.00
Autoimmune Lymphoproliferative Syndrome via FAS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Congenital Fibrinogen Deficiency via FGA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Chronic Hereditary Pancreatitis via PRSS1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX13 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Keratoconus and Posterior Polymorphous Corneal Dystrophy via VSX1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via AGT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via AGTR1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Autosomal Dominant Stargardt disease (STGD3) via ELOVL4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Oguchi Disease and Retinitis Pigmentosa (RP47) via SAG Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX19 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Osteopetrosis via CLCN7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1250.00
Osteogenesis Imperfecta via SP7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Chronic Hereditary Pancreatitis via SPINK1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Ectodermal Dysplasia via EDARADD Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Osteopetrosis via OSTM1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Hereditary Thrombocythemia via THPO Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Optic Atrophy 7 (OPA7) via TMEM126A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Cone-Rod Dystrophy via KCNV2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Erythropoietic Protoporphyria via FECH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Osteogenesis Imperfecta via SERPINF1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
OculoDentoDigital Dysplasia (ODDD) via GJA1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$250
Branchio-Oculo-Facial Syndrome (BOFS) via TFAP2A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via NR2F1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Common Variable Immune Deficiency/IgA Deficiency via TNFRSF13B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Acute Intermittent Porphyria via HMBS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Congenital Disorders of Glycosylation, Type IIj via COG4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Osteogenesis Imperfecta via CRTAP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Osteogenesis Imperfecta via P3H1 / LEPRE1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Glucose Phosphate Isomerase Deficiency via GPI Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1060.00
Osteogenesis Imperfecta via FKBP10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Osteogenesis Imperfecta via BMP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1130.00
Porphyria Cutanea Tarda Type II/Hepatoerythropoietic Porphyria via UROD Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Perrault Syndrome Type 2 via HARS2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Hermansky-Pudlak Syndrome Type 9 (HPS9) via BLOC1S6/PLDN Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Mucopolysaccharidosis Type IX via HYAL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ8B/ADCK4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Perrault Syndrome Type 4 via LARS2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1160.00
Deafness, X-Linked 2 (DFNX2) via POU3F4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Deafness, Autosomal Recessive 24 (DFNB24) via RDX Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
P450 Oxidoreductase Deficiency via POR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Medullary Cystic Kidney Disease type 2 and Familial Juvenile Hyperuricemic Nephropathy type 1 via UMOD Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
GLUD1-Related Congenital Hyperinsulinism via GLUD1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$990
McLeod Syndrome via XK Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Dystroglycanopathies via POMK Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Congenital Methemoglobinemia via CYB5R3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$750
Congenital Central Hypoventilation Syndrome (CCHS) via PHOX2A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Mosaic Variegated Aneuploidy Syndrome via CEP57 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
X-linked Sideroblastic Anemia via ALAS2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1020.00
Schnyder Crystalline Corneal Dystrophy (SCCD) via UBIAD1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Gelatinous Drop-Like Corneal Dystrophy (GDLD) via TACSTD2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Hyper IgM Syndrome via AICDA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Hereditary Motor and Sensory Neuropathy IIB (HMSN2B) via RAB7A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Chronic Granulomatous Disease via CYBA Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$650
LIG4 Syndrome via LIG4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Fibrodysplasia Ossificans progressiva (FOP) via ACVR1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Primary Ciliary Dyskinesia (PCD) via CCDC103 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Chronic Granulomatous Disease via NCF2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Chronic Joint Pain and Dysfunction via MMP13 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome via FOXP3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Nephrotic Syndrome via EMP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Long QT Syndrome via KCNJ5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Epimerase Deficiency Galactosemia via GALE Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Iron-Refractory Iron Deficiency Anemia (IRIDA) via TMPRSS6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1280.00
Hereditary Angioedema via SERPING1 /C1NH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Acrofacial Dysostosis 1, Nagar Type via SF3B4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Congenital Abnormalities of Kidney and Urinary Tract (CAKUT) and VACTERL Association via TRAP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Perrault Syndrome Type 3 and Deafness, Autosomal Recessive 8 (DFNB8) via CLPP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via KISS1R Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via TAC3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via TACR3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Familial Hypocalciuric Hypercalcemia (FHH) via AP2S1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Severe Congenital Neutropenia and Neutrophilia via CSF3R Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Brugada Syndrome via SCN3B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Thrombocytopenia via CYCS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$370.00
Osteopetrosis via SNX10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Hyaline Fibromatosis Syndrome via ANTXR2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1060.00
X-Linked Complete Congenital Stationary Night Blindness (CSNB1) via NYX Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Oocyte Maturation Defect (OOMD) via ZP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Tooth Agenesis via PAX9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Dihydropyrimidinase deficiency via DPYS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via EFEMP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Increased Pain Sensitivity via COMT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Osteogenesis Imperfecta via SERPINH1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
GAPO Syndrome via ANTXR1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
1,100
Isolated Foveal Hypoplasia Type 2 (FVH2) via SLC38A8 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via NKX2-1/TTF1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
X-linked Lenz Microphthalmia Syndrome and Lethal Ogden Syndrome via NAA10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Macular Corneal Dystrophy (MCD) via CHST6 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$370
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via IYD/DEHAL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via DUOXA2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Posterior Microphthalmia via PRSS56 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Long QT Syndrome via SCN4B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
PMP22-Related Neuropathies via PMP22 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Thromboxane A2 Receptor Deficiency via TBXA2R Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
IL-12 Receptor B1 Deficiency via IL12RB1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1220.00
Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via CTC1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1220.00
Congenital Central Hypoventilation Syndrome (CCHS) via ASCL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Fish-Eye Disease and Norum Disease via LCAT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Aceruloplasminemia via CP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1220.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via TUBB3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Congenital Central Hypoventilation Syndrome (CCHS) via BMP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Urofacial Syndrome 2 via LRIG2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Urofacial Syndrome 1 via HPSE2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
Karyomegalic Tubulointerstitial Nephritis (KTN) via FAN1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Globozoospermia via SPATA16 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Charcot Marie Tooth Disease via COX6A1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
REEP1-Related Disorders via REEP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Surfactant Protein C Deficiency via SFTPC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Maturity Onset Diabetes of Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via NEUROD1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Van Maldergem Syndrome (Cerebro-Facio-Articular Syndrome) via DCHS1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1900.00
Methylmalonic Aciduria and/or Homocystinuria via CD320 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
MPZ-Related Neuropathies via MPZ Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Sengers Syndrome via AGK Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Maturity Onset Diabetes of Young (MODY) via KLF11 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Sepiapterin Reductase (SR) Deficiency via SPR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Methylmalonic Aciduria and Homocystinuria, cblD Type, via MMADHC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Craniosynostosis and Dental Anomalies, Autosomal Recessive Crouzon-like Craniosynostosis via IL11RA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Pyruvate Dehydrogenase E2 Deficiency via DLAT Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$990
Pyruvate Dehydrogenase Phosphatase Deficiency via PDP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Pyruvate Dehydrogenase E3-Binding Protein (E3BP) Deficiency via PDHX Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Mitochondrial Phosphoenolpyruvate Carboxykinase 2 Deficiency via PCK2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
TSFM-Related Combined Oxidative Phosphorylation Deficiency via TSFM Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
MRPL3-Related Combined Oxidative Phosphorylation Deficiency via MRPL3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Ectodermal Dysplasia via WNT10A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Osteopetrosis via TNFSF11 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
HESX1-Related Disorders via HESX1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Cataract Type 11 via PITX3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Atrial Fibrillation via GJA5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Renal Hypouricemia Type 2 via SLC2A9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-Related Disorders via TWNK/C10orf2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via SLC16A2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Thiamine Responsive Megaloblastic Anemia via SLC19A2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
DGUOK-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via DGUOK Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Deafness, Autosomal Recessive 29 (DFNB29) via CLDN14 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Usher Syndrome Type IJ and Deafness, Autosomal Recessive 48 (DFNB48) via CIB2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Triosephosphate Isomerase Deficiency via TPI1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Primordial Dwarfism via POC1A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
3-M Syndrome via CCDC8 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Deafness, Autosomal Recessive 6 (DFNB6) via TMIE Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Craniofrontonasal Syndrome via EFNB1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Anti-Plasmin Deficiency via SERPINF2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Cone-Rod Dystrophy via CABP4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Familial Platelet Function Disorder via GP6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Combined Factor V and Factor VIII Deficiency via MCFD2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Congenital Factor XIII Deficiency via F13B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
Factor VII Deficiency via F7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Fundus Albipunctatus With or Without Cone Dystrophy via RDH5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Cone-Rod Dystrophy via UNC119 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Oculocutaneous Albinism Type 6 (OCAVI) via SLC24A5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Oculocutaneous Albinism Type 7 (OCAVII) via LRMDA (C10orf11) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Congenital Hypothyroidism (Thyrotropin-Releasing Hormone Deficiency) via TRH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Dilated Cardiomyopathy via LAMA4 Gene Sequencing with CNV Detection
Exome with CNV
$930.00
Sanger Sequencing
$1750.00
Dilated Cardiomyopathy via NEXN Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Dilated Cardiomyopathy via RBM20 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Neuronal Ceroid Lipofuscinosis 13 via CTSF Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Primary Ciliary Dyskinesia (PCD) via DNAAF5 (HEATR2) Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$970
FBXL4-Related Mitochondrial DNA Depletion Syndrome via FBXL4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
UCP2-Related Congenital Hyperinsulinism via UCP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Deafness, Autosomal Recessive 8 (DFNB8) and Deafness, Autosomal Recessive 10 (DFNB10) via TMPRSS3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
MGME1-Related Mitochondrial DNA Depletion Syndrome via MGME1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia via FGF3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$590
Deafness, Autosomal Recessive 49 (DFNB49) via MARVELD2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Deafness, Autosomal Recessive 15 (DFNB15) via GIPC3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Deafness, Autosomal Dominant 15 (DFNA15) via POU4F3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Hypertrophic Cardiomyopathy via MYBPC3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1380.00
Cone-Rod Dystrophy via CNNM4 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$780
Renal Hypomagnesemia 3 via CLDN16 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Thiopurine S-Methyltransferase (TPMT) Deficiency via TPMT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) via FAM111B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Frontonasal Dysplasia (Frontorhiny) via ALX3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Autosomal Recessive Transient Infantile Liver Failure (LFIT) via TRMU Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Primary Ciliary Dyskinesia (PCD) via CCNO Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Cataract 9, Multiple Types (CTRCT9) via CRYAA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Osteogenesis Imperfecta via WNT1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
SURF1-Related Leigh Syndrome (LS) via SURF1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Deafness, Autosomal Recessive 63 (DFNB63) via LRTOMT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Van der Woude Syndrome (VWS) via GRHL3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
KLICK Syndrome via POMP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Autosomal Recessive Mitochondrial Pyruvate Carrier Deficiency (MPYCD) via MPC1 (BRP44L) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Cataract 23 (CTRCT23) via CRYBA4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Cataract 17, Multiple Types (CTRCT17) via CRYBB1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome via CALM1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
TACO1-Related Leigh Syndrome (LS) via TACO1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Cataract 3, Multiple Types (CTRCT3) via CRYBB2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Cataract 22, Multiple Types (CTRCT22) via CRYBB3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Cataract Type 2 (CTRCT2) via CRYGC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Hypertension and Brachydactyly Syndrome via PDE3A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1190.00
Left Ventricular Noncompaction (LVNC) via DTNA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1190.00
Spastic Paraplegia 4 via SPAST Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Deafness, Autosomal Dominant 4B (DFNA4B) via CEACAM16 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Spastic Paraplegia 11 via SPG11 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$2300.00
Deafness, Autosomal Dominant 40 (DFNA40) via CRYM Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Deafness, Autosomal Dominant 20 (DFNA20) via ACTG1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Spastic Paraplegia 72 via REEP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Methlymalonyl-CoA Epimerase Deficiency via MCEE Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Spastic Paraplegia 61 via ARL6IP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Spastic Paraplegia 6 via NIPA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Spinocerebellar Ataxia 21 via TMEM240 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Primary Immunodeficiency via IRAK4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Atrial Fibrillation Syndrome via NPPA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Mitochondrial Complex I Deficiency via NDUFV1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Spastic Paraplegia 8 via WASHC5/KIAA0196 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1470.00
Hereditary Spastic Paraplegia via ATP2B4 (PMCA4) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Charcot-Marie-Tooth Type 4D via NDRG1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Dimethylglycine Dehydrogenase Deficiency via DMGDH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Ectodermal Dysplasia via NECTIN1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
β-Mannosidase Deficiency via MANBA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Mitochondrial Complex V Deficiency via ATPAF2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Mitochondrial Complex V Deficiency via ATP5F1E (ATP5E) Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$440
Sitosterolemia via ABCG5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Deafness, Autosomal Dominant 2B (DFNA2B) via GJB3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Spastic Paraplegia 21 (Mast Syndrome) via SPG21(ACP33) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Deafness, Autosomal Recessive 74 (DFNB74) via MSRB3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Methionine Adenosyltransferase I/III Deficiency via MAT1A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Mitochondrial Phosphate Carrier Deficiency via SLC25A3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
S-Adenosylhomocysteine Hydrolase Deficiency via AHCY Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via SLC25A4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Mitochondrial Complex V Deficiency via ATP5F1A (ATP5A1) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Leigh Syndrome Associated with Isolated Complex I Deficiency via NDUFA12 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Primordial Dwarfism via XRCC4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Duane Retraction Syndrome Type 2 via CHN1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via NDUFAF2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Deafness, Autosomal Recessive 25 (DFNB25) via GRXCR1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Deafness, Autosomal Recessive 91 (DFNB91) via SERPINB6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Deafness, Autosomal Dominant 64 (DFNA64) via DIABLO Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Deafness, Autosomal Dominant 25 (DFNA25) via SLC17A8 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Gyrate Atrophy of Choroid and Retina via OAT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Alexander Disease via GFAP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
AIFM1-Related Disorders via AIFM1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$990
LAS1L-Related Disorders via LAS1L Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Spastic Paraplegia 20 (Troyer Syndrome) via SPART (SPG20) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via NDUFS7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Mitochondrial Complex I Deficiency via NDUFA11 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via NDUFA9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Mitochondrial Complex I Deficiency via NDUFAF4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Mitochondrial Complex I Deficiency via NDUFB9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Mitochondrial Complex I Deficiency via NDUFV2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Sorsby Fundus Dystrophy via TIMP3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Mitochondrial Complex I Deficiency via NDUFAF1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Mitochondrial Complex I Deficiency via NDUFS4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Primary Microcephaly, Autosomal Recessive, via CEP152 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1490.00
Diaphanospondylodysostosis via BMPER Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
Spastic Paraplegia 54 via DDHD2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Spastic Paraplegia 28 via DDHD1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1220.00
Brachydactyly via CHSY1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$910
Autosomal Recessive Retinitis Pigmentosa via FLVCR1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Limb Girdle Muscular Dystrophy Type 2Y via TOR1AIP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Mitochondrial Complex III Deficiency via UQCRC2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
Mitochondrial Complex III Deficiency via UQCRB Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Spastic Paraplegia 12 via RTN2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Spastic Paraplegia 62 via ERLIN1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Spastic Paraplegia 18 via ERLIN2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Mitochondrial Complex III Deficiency via UQCC2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Mitochondrial Complex III Deficiency via LYRM7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Mitochondrial Complex III Deficiency via CYC1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Kenny-Caffey Syndrome Type 2 via FAM111A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
GYG1-Related Disorders via GYG1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Retinitis Pigmentosa 7 via ROM1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Deafness, Autosomal Dominant 69 (DFNA69), and Familial Progressive Hyperpigmentation with or without Hypopigmentation via KITLG Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Autosomal Dominant Retinitis Pigmentosa via PRPF6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Cutis Laxa via LTBP4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1440.00
Autosomal Dominant Retinitis Pigmentosa via SNRNP200 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Epidermolytic Hyperkeratosis via KRT1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Ichthyosis Bullosa, Siemens via KRT2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Primary Aldosteronism via CACNA1D Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Pantothenate Kinase-Associated Neurodegeneration (PKAN, Hallervorden-Spatz Disease) via PANK2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Mitochondrial Complex IV Deficiency via COX20 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Mitochondrial Complex V Deficiency via TMEM70 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Mitochondrial Complex IV Deficiency via COA5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
PLA2G6-Associated Neuroderation, Infantile Neuroaxonal Dystrophy and Parkinson Disease via PLA2G6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Hereditary Folate Malabsorption via SLC46A1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Mitochondrial Membrane Protein-Associated Neurodegeneration via C19orf12 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Palmoplantar Keratoderma, Epidermolytic via KRT9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Galactosialidosis via CTSA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Charcot-Marie-Tooth Type 2E/1F via NEFL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Charcot-Marie-Tooth 1C via LITAF Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Hypomagnesemia via FXYD2 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$440
Mitochondrial Hypomagnesemia via SARS2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Intellectual Disability, X-linked, Claes-Jensen Type via KDM5C Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1440.00
Primary Ciliary Dyskinesia (PCD) via ZMYND10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Primary Ciliary Dyskinesia (PCD) via CFAP298 (C21ORF59) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction (MSSD) via BHLHA9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Combined Malonic and Methylmalonic Aciduria (CMAMMA) via ACSF3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Congenital Myasthenic Syndrome via SYT2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Autism Spectrum Disorders via TRIP12 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1990.00
CANDLE Syndrome via PSMB8 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Aromatic L-amino Acid Decarboxylase Deficiency via DDC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Mitochondrial Complex IV Deficiency via SCO2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Mitochondrial Complex IV Deficiency via SCO1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Mitochondrial Complex I Deficiency via NUBPL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Mitochondrial Complex I Deficiency via NDUFS6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Ectodermal Dysplasia/Tooth Agenesis via MSX1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Combined Pituitary Hormone Deficiency-2 (CPHD2) via PROP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Atrial Fibrillation Syndrome via MYL4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Nephrotic Syndrome via KANK4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
Malonyl-CoA Decarboxylase Deficiency via MLYCD Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Spastic Paraplegia 50 via AP4M1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Spastic Paraplegia 52 via AP4S1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Spastic Paraplegia 51 via AP4E1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Spastic Paraplegia 47 via AP4B1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Helsmoortel-Van der Aa Syndrome via ADNP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Renpenning Syndrome via PQBP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Spastic Paraplegia 58 via KIF1C Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1310.00
Mitochondrial Complex IV Deficiency via COA3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$440
Mitochondrial Complex IV Deficiency via COA6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Mitochondrial Complex IV Deficiency via COX14 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$370
Mitochondrial Complex IV Deficiency via COX6B1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Wieacker-Wolff Syndrome via ZC4H2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Retinitis Pigmentosa 58 (RP58) via ZNF513 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Brugada Syndrome via RANGRF Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Mitochondrial Complex IV Deficiency via COX15 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Mitochondrial Complex IV Deficiency via FASTKD2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Mitochondrial Complex IV Deficiency via APOPT1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Spondylocostal Dysostosis and Spondylothoracic Dysostosis via MESP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Intellectual Disability via ACSL4 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$910
Autism Spectrum Disorders via KMT5B (SUV420H1) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
Bamforth-Lazarus Syndrome via FOXE1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Microphthalmia and Anophthalmia via RAX Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
DYT1 Early-Onset Isolated Dystonia via TOR1A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Paris-Trousseau Thrombocytopenia via FLI1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Autism Spectrum Disorders/Intellectual Disability via ASH1L Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$2170.00
Intellectual Disability (Syndromic and Non-Syndromic) via HUWE1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Woodhouse-Sakati Syndrome via DCAF17 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Meesmann Corneal Dystrophy (MCD) via KRT12 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Spastic Paraplegia 5A via CYP7B1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Baraitser-Winter Cerebrofrontofacial Syndrome Type 1 (Syndromic Intellectual Disability) via ACTB Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Autism Spectrum Disorders via DSCAM Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1800.00
Autism Spectrum Disorders via CHD8 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$2080.00
Autosomal Recessive Retinitis Pigmentosa 36 (RP36) via PRCD Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Osteogenesis Imperfecta via TMEM38B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
COASY Protein-Associated Neurodegeneration via COASY Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Myopathy with Lactic Acidosis via ISCU Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Limb Girdle Muscular Dystrophy Type 1G via HNRNPDL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Male Infertility via CATSPER1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$1060
Congenital Generalized Lipodystrophy (CGL) via AGPAT2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$640.00
Lipodystrophy and Heritable Pulmonary Arterial Hypertension via CAV1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Dystonia via GNAL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Spastic Paraplegia 48 via AP5Z1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Spastic Paraplegia 26 via B4GALNT1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Dystonia via THAP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Dystonia via ANO3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Tyrosinemia Type III and Hawkinsinuria via HPD Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Polyglucosan Body Myopathy Type I, with or without Immunodeficiency, via RBCK1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Spastic Paraplegia 35 via FA2H Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Congenital Disorder of Glycosylation, Type Iu and Secondary Dystroglycanopathy via DPM2 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Dias-Logan Syndrome via BCL11A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
D-2-Hydroxyglutaric Aciduria Type I via D2HGDH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Spastic Paraplegia 46 via GBA2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
TFG-Related Disorders via TFG Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Autism Spectrum Disorders via FOXP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
Cataract Type 14 via GJA3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$540
Hypophosphatemic Nephrolithiasis/Osteoporosis-2 (NPHLOP2) via SLC9A3R1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
L-2-Hydroxyglutaric Aciduria Type I via L2HGDH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Nephrolithiasis via SLC26A1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Primary Ciliary Dyskinesia (PCD) via CCDC151 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Dilated Cardiomyopathy via ANKRD1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Spastic Paraplegia 75 via MAG Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Molybdenum Cofactor Deficiency Type B via MOCS2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Molybdenum Cofactor Deficiency Type A via MOCS1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Xanthinuria Type II via MOCOS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1130.00
Sulfite Oxidase Deficiency via SUOX Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Spastic Paraplegia 56 via CYP2U1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS19 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPL11 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via FGF20 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
AMPD2-Related Disorders via AMPD2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS24 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS26 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Congenital Stationary Night Blindness via LRIT3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Premature Ovarian Failure via FIGLA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Tenorio Syndrome via RNF125 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Premature Ovarian Failure/Ovarian Dysgenesis via SOHLH1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Premature Ovarian Failure via HFM1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Autosomal Recessive Retinitis Pigmentosa via SLC7A14 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Congenital Cataracts via CHMP4B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct via FOXI1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
TARP Syndrome via RBM10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1280.00
White-Sutton Syndrome via POGZ Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1340.00
Intellectual Disability via TECR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Intellectual Disability via MYT1L Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1440.00
Primrose Syndrome via ZBTB20 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
X-linked Intellectual Disability via RPL10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPL35A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
X-linked Intellectual Disability via DLG3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$1100
Intellectual Disability via TUSC3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Cataract 19 (CTRCT19) via LIM2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Male Infertility with Globozoospermia via PICK1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Premature Ovarian Failure via MCM9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPL15 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Benign Flecked Retina Disorder via PLA2G5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome via FEZF1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Intellectual Disability via ADAT3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Achromatopsia 6 or Retinal Cone Dystrophy 3 via PDE6H Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Dyskeratosis Congenita (DC) via NOP10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$890.00
Cone-Rod Dystrophy via DRAM2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Pontocerebellar Hypoplasia via CHMP1A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Spastic Paraplegia 76 via CAPN1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Autism Spectrum Disorders via CACNA2D3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Autism Spectrum Disorders and CTNND2-Related Disorders via CTNND2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Intellectual Disability via CRBN Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Bohring-Opitz Syndrome via ASXL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1280.00
Primary Ciliary Dyskinesia (PCD) via DNAJB13 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Primary Ciliary Dyskinesia (PCD) via RSPH3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Primary Ciliary Dyskinesia (PCD) via PIH1D3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Thrombocytopenia and Related Hematopoietic Disorders via GATA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$560.00
Autism Spectrum Disorders via KATNAL2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome via MBTPS2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Currarino Syndrome via MNX1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Maturity Onset Diabetes of the Young (MODY) via APPL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Pontocerebellar Hypoplasia via CLP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Dyskeratosis Congenita (DC) via NHP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$520.00
Autosomal Dominant Polycystic Kidney Disease via PKD2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Autosomal Dominant Polycystic Kidney Disease via PKD1 Gene Sequencing with CNV Detection
Exome with CNV
$1490.00
X-linked Intellectual Disability via UBE2A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Autosomal Dominant Polycystic Kidney Disease (ADPKD) via DNAJB11 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Nonphotosensitive Trichothiodystrophy 5 (X-linked Intellectual Disability) via RNF113A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Kindler Syndrome via FERMT1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1020.00
Dyskeratosis Congenita (DC) via WRAP53 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$790.00
Intellectual Disability via GRIK2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1060.00
Autosomal Dominant Polycystic Kidney Disease via GANAB Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Autosomal Recessive Polycystic Kidney Disease (ARPKD) via DZIP1L Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Renal Hypodysplasia/Aplasia Type 3 via GREB1L Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Warburg Micro Syndrome via RAB3GAP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Autosomal Dominant Retinitis Pigmentosa 77 (RP77) via REEP6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome via AXL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome via CCDC141 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome via FGF17 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Fanconi Anemia via FANCB Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$890.00
Late-Onset Autosomal Dominant Retinitis Pigmentosa 42 (RP42) and Crisponi/Cold-Induced Sweating Syndrome Type 1(CISS1)-Like Phenotype Associated with Early-Onset Autosomal Recessive Retinitis Pigmentosa via KLHL7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Dyskeratosis Congenita (DC) and Revesz Syndrome via TINF2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Autosomal Recessive Retinitis Pigmentosa 69 (RP69) via KIZ Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Fanconi Anemia via FANCE Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$724.00
Colobomatous Microphthalmia and Skeletal Dysplasia Syndrome via MAB21L2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Cone-Rod Dystrophy 20 via POC1B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Autosomal Recessive Retinitis Pigmentosa 69 (RP69) via IMPG2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Fanconi Anemia via FANCI Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1610.00
Dyskeratosis Congenita (DC) via PARN Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Autosomal Dominant Vitelliform Macular Dystrophy via IMPG1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Autosomal Dominant Congenital Cataracts via MIP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Peeling Skin Syndrome via TGM5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Fanconi Anemia via FANCF Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Hereditary Diffuse Leukoencephalopathy with Spheroids via CSF1R Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Fanconi Anemia via FANCM Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$1490.00
Hydrocephalus, Congenital, 1 via CCDC88C Gene Sequencing with CNV Detection
Exome with CNV
$890
X-Linked Lissencephaly-1 and Subcortical Band Heteropia via DCX Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$610

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

Searched:

19

Available Test Methods

  • Sanger - BiDirectional Sanger Sequencing
  • Del/Dup - Deletion/Duplication and Array (aCGH)
  • NextGen - NextGen Sequencing (NGS)