Search Results

Test Descriptions Found:

1518

Searched:

19

METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing
    PG-Select
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
  • Other
Panel(s) Available Method Price
Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Id, Ie, If, Ig, Ih, Ii) with CNV Detection
Sequencing with CNV
PGxome
$890
Paget Disease of Bone (PDB) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Ia, Ib, and Ic) with CNV Detection
Sequencing with CNV
PGxome
$960
Rotor Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Agnathia-Otocephaly Complex Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Left Ventricular Noncompaction (LVNC) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Leber Congenital Amaurosis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Flecked Retina Disorder Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1100
Hypoparathyroidism Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$930
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$990
Mitochondrial Complex II Deficiency Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Mitochondrial Complex V Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)
Sequencing with CNV
PGxome
$890
Hypomagnesemia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)
Sequencing with CNV
PGxome
$890
Fetal Concerns Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Primary Aldosteronism Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)
Sequencing with CNV
PGxome
$890
Brittle Cornea Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Neuroblastoma Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1000
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)
Sequencing with CNV
PGxome
$890
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1070
Autism Spectrum Disorders and Intellectual Disability (ASD-ID) Comprehensive Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$2490
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Dystonia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1380
Comprehensive Cardiology Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1310
Tooth Agenesis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Sudden Cardiac Arrest Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Dilated Cardiomyopathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Pan Cardiomyopathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$990
Interstitial Lung Disease Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1210
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1490
Hypogonadotropic Hypogonadism/Kallmann Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$930
Agammaglobulinemia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hyper IgM Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Diamond-Blackfan Anemia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1070
Autism Spectrum Disorders Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1240
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1240
Congenital Limb Malformation Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$990
Neonatal Crisis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$2490
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1280
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1240
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$990
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$990
Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Severe Congenital Neutropenia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1240
3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Lymphedema Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$960
CADASIL and CARASIL Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Ellis-van Creveld Syndrome (EVC) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hereditary Multiple Osteochondromas (HMO) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hereditary Xerocytosis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Infantile Myofibromatosis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Schwannomatosis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Sitosterolemia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Ataxia with Oculomotor Apraxia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Periodic Fever Syndromes Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Long QT Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Primary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$960
Kallmann Syndrome (KS) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Porphyria Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Cornelia de Lange Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hereditary Hemochromatosis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$930
Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Spherocytosis/Elliptocytosis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Short QT Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hirschsprung Disease (Non-syndromic) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Coffin-Siris Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Spondylocostal Dysostosis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Episodic Pain Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Primary Periodic Paralysis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Acute/Neurovisceral Porphyria Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Chronic Granulomatous Disease Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Fraser Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Kabuki Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Type VI-Related Collagenopathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Warburg Micro Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Craniosynostosis and Related Disorders Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Stuttering Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Meier-Gorlin Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Ectodermal Dysplasia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Waardenburg Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1140
Usher Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Brugada Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Familial Hemiplegic Migraine Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Optic Atrophy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Wolfram Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Chronic Pancreatitis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1140
Disorders of Folate Metabolism and Transport Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Glutaric Acidemia Type II Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Homocystinuria Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Urea Cycle Disorders Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1170
Ciliopathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1130
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$990
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1030
Glaucoma Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$930
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1100
Congenital Cataracts Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Autosomal Dominant Polycystic Kidney Disease (ADPKD) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1590
Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Malignant Hyperthermia Susceptibility Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Oculocutaneous Albinism Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Peroxisomal Disorders Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hyperammonemia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$930
Autosomal Recessive Polycystic Kidney Disease (ARPKD) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1590
Cone-Rod Dystrophy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$960
Achromatopsia (ACHM) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$990
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$930
Cystinuria Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Dent Disease Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Alagille Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Infantile Liver Failure Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Kenny-Caffey Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Branchiootorenal Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Glycine Encephalopathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Isolated Polycystic Liver Disease (PCLD) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hydrocephalus Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Congenital Generalized Lipodystrophy (CGL) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Distal Renal Tubular Acidosis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Pseudohypoaldosteronism Type I Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Cholestasis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Pseudohypoaldosteronism Type II Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hypermethioninemia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hyper IgE Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Omenn Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Polycystic Liver Disease (PLD) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1560
Glanzmann's Thrombasthenia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Congenital Fibrinogen Deficiency Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Familial Hypercholesterolemia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hermansky-Pudlak Syndrome (HPS) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Coagulation Factor Deficiency Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Platelet Function Disorder Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Thrombocytopenia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded
Sequencing with CNV
PGxome
$930
Congenital Hyperinsulinism Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Bleeding Disorders Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1030
Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Fanconi Anemia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1170
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Aicardi-Goutières Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Distal Arthrogryposis Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Nemaline Myopathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Comprehensive Neuropathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1030
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$960
Organic Aciduria Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1000
Metabolic Hypoglycemia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1070
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1170
Methylmalonic Acidemia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Methylmalonic Aciduria and Homocystinuria Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Hydroxyglutaric Aciduria Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
X-Linked Intellectual Disability Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1240
Bardet-Biedl Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection
Sequencing with CNV
PGxome
$990
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1280
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1690
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$960
Hypopigmentation Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$2010
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection
Sequencing with CNV
PGxome
$1280
Chromosomal Instability Syndromes Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Opitz G/BBB Syndrome Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$960
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Ambiguous Genitalia Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$990
Hypospadias Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$990
Xeroderma Pigmentosum Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$930
Corneal Dystrophies Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$930
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1490
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$990
Parkinson Disease Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$890
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1630
Male Infertility Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1380
Female Infertility Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$1280
Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection
Sequencing with CNV
PGxome
$960
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
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via PLN Gene Sequencing with CNV Detection
Sanger Sequencing
$370
Sequencing with CNV
PGxome
$890
Barth Syndrome via TAZ Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Hypertrophic Cardiomyopathy via MYL2 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Hypertrophic Cardiomyopathy via MYL3 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via TPM1 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Hypertrophic Cardiomyopathy and Related Disorders via TNNI3 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Hypertrophic Cardiomyopathy and Related Disorders via TNNT2 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Hypertrophic Cardiomyopathy via TNNC1 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Heterotaxy, Visceral 5 (HTX5) via NODAL Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
X-linked Heterotaxy (HTX1) via ZIC3 Gene Sequencing with CNV Detection
Sanger Sequencing
$590
Sequencing with CNV
PGxome
$890
Papillon-Lefevre Syndrome (PLS) via CTSC Gene Sequencing with CNV Detection
Sanger Sequencing
$770
Sequencing with CNV
PGxome
$890
Dentinogenesis Imperfecta (DGI) and Dentin Dysplasia (DD) via DSPP Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Hermansky-Pudlak Syndrome Type 8 (HPS8) via BLOC1S3 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Griscelli Syndrome-Type 2 (GS2) via RAB27A Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Familial Hemophagocytic Lymphohistiocytosis-Type 2 (FHL2) via PRF1 Gene Sequencing with CNV Detection
Sanger Sequencing
$590
Sequencing with CNV
PGxome
$890
Familial Hemophagocytic Lymphohistiocytosis-Type 4 (FHL4) via STX11 Gene Sequencing with CNV Detection
Sanger Sequencing
$480
Sequencing with CNV
PGxome
$890
Lymphedema-Distichiasis Syndrome via FOXC2 Gene Sequencing with CNV Detection
Sanger Sequencing
$560
Sequencing with CNV
PGxome
$890
Lymphedema with Hypotrichosis and Telangiectasia via SOX18 Gene Sequencing with CNV Detection
Sanger Sequencing
$590
Sequencing with CNV
PGxome
$890
Hereditary Lymphedema via GJC2 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Bernard-Soulier Syndrome via GP1BA Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Bernard-Soulier Syndrome via GP1BB Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Bernard-Soulier Syndrome via GP9 Gene Sequencing with CNV Detection
Sanger Sequencing
$370
Sequencing with CNV
PGxome
$890
Wiskott-Aldrich Syndrome, X-linked Thrombocytopenia, and X-linked Congenital Neutropenia, via WAS Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Severe Congenital Neutropenia via GFI1 Gene Sequencing with CNV Detection
Sanger Sequencing
$670
Sequencing with CNV
PGxome
$890
Leukocyte Adhesion Deficiency Type 2 (LADII) via SLC35C1 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Short Chain Acyl-CoA Dehydrogenase Deficiency via ACADS Gene Sequencing with CNV Detection
Sanger Sequencing
$730
Sequencing with CNV
PGxome
$890
ALS2-Related Disorders via ALS2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1650
Sequencing with CNV
PGxome
$890
Smith-Lemli-Opitz Syndrome via DHCR7 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Carbamoylphosphate Synthetase I Deficiency via CPS1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1750
Sequencing with CNV
PGxome
$890
Fanconi-Bickel Syndrome via SLC2A2 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance via OPHN1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1190
Sequencing with CNV
PGxome
$890
Glycogen Storage Disease Type Ib via SLC37A4 (G6PT1) Gene Sequencing with CNV Detection
Sanger Sequencing
$670
Sequencing with CNV
PGxome
$890
Trimethylaminuria via FMO3 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Paroxysmal Paralytic Rhabdomyolysis via LPIN1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1080
Sequencing with CNV
PGxome
$890
Glycogen Storage Disease Type IX via PHKG2 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Fructose-1,6-Bisphosphatase Deficiency via FBP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Creatine Deficiency Syndrome via GATM Gene Sequencing with CNV Detection
Sanger Sequencing
$690
Sequencing with CNV
PGxome
$890
Danon Disease/Glycogen Storage Disease IIb via LAMP2 Gene Sequencing with CNV Detection
Sanger Sequencing
$690
Sequencing with CNV
PGxome
$890
Maple Syrup Urine Disease Type IB via BCKDHB Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation, Type Ig (CDG Ig) via ALG12 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation, Type Ii (CDG Ii) via ALG2 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation, Type Ih (CDG Ih) via ALG8 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation, Type If (CDG If) via MPDU1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation, Type Id (CDG Id) via ALG3 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Tyrosinemia, Type I via FAH Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Farber Lipogranulomatosis via ASAH1 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Knobloch Syndrome, Type I via COL18A1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1750
Sequencing with CNV
PGxome
$890
Joubert Syndrome via ARL13B Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
RHO-Related Disorders via RHO Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Retinitis Pigmentosa via IMPDH1 Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Leber Congenital Amaurosis via CRX Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Retinitis Pigmentosa via PRPF31 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Meckel-Gruber Syndrome / Joubert Syndrome via TCTN2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1010
Sequencing with CNV
PGxome
$890
TULP1-Associated Disorders via TULP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Nephronophthisis and Joubert Syndrome via NPHP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1050
Sequencing with CNV
PGxome
$890
Nephronophthisis via INVS / NPHP2 Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Nephronophthisis and Senior-Loken syndrome via NPHP3 Gene Sequencing with CNV Detection
Sanger Sequencing
$1250
Sequencing with CNV
PGxome
$890
Retinitis Pigmentosa via CNGB1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1340
Sequencing with CNV
PGxome
$890
Nephronophthisis via NPHP4 Gene Sequencing with CNV Detection
Sanger Sequencing
$1280
Sequencing with CNV
PGxome
$890
Nephronophthisis via GLIS2/NPHP7 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Nephronophthisis via NEK8/NPHP9 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Nephronophthisis-Like Nephropathy-1 (NPHPL1) via XPNPEP3 Gene Sequencing with CNV Detection
Sanger Sequencing
$790
Sequencing with CNV
PGxome
$890
X-linked Retinitis Pigmentosa (XLRP) via RP2 Gene Sequencing with CNV Detection
Sanger Sequencing
$590
Sequencing with CNV
PGxome
$890
Robinow Syndrome and Autosomal Recessive Brachydactyly, Type B1 via ROR2 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Nemaline Myopathy 7 via CFL2 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via TNNI2 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Distal Myopathy 2 via MATR3 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Male Infertility with Large-Headed Spermatozoa via AURKC Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Primary Ciliary Dyskinesia (PCD) via RSPH4A Gene Sequencing with CNV Detection
Sanger Sequencing
$690
Sequencing with CNV
PGxome
$890
Primary Ciliary Dyskinesia (PCD) via RSPH9 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Primary Ciliary Dyskinesia (PCD) via NME8 (TXNDC3) Gene Sequencing with CNV Detection
Sanger Sequencing
$890
Sequencing with CNV
PGxome
$890
Primary Ciliary Dyskinesia (PCD) via DNAL1 Gene Sequencing with CNV Detection
Sanger Sequencing
$690
Sequencing with CNV
PGxome
$890
Myopathy, Congenital via TPM3 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
α-Actin (Skeletal Muscle Form)-Related Myopathy via ACTA1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Myofibrillar Myopathy via CRYAB Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Myofibrillar Myopathy via DES Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Myotilinopathy via MYOT Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Dystroglycanopathy via DAG1 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Heat Shock 27 kDa Protein-Related Disorders via HSPB1 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Heat Shock 22 kDa Protein-Related Disorders via HSPB8 Gene Sequencing with CNV Detection
Sanger Sequencing
$460
Sequencing with CNV
PGxome
$890
Restrictive Dermopathy and Mandibuloacral Dysplasia with Type B Lipodystrophy via ZMPSTE24 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via CHRNA1 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
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
Sanger Sequencing
$630
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation, Type Ie (CDG Ie) via DPM1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy via DPM3 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Holoprosencephaly-3 (Autosomal Dominant Nonsyndromic) via SHH Gene Sequencing with CNV Detection
Sanger Sequencing
$670
Sequencing with CNV
PGxome
$890
Holoprosencephaly-2 (Autosomal Dominant, Nonsyndromic) via SIX3 Gene Sequencing with CNV Detection
Sanger Sequencing
$560
Sequencing with CNV
PGxome
$890
Holoprosencephaly-4 (Autosomal Dominant, Nonsyndromic) via TGIF1 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Autosomal Dominant, Non-Syndromic Holoprosencephaly via GAS1 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Myofibrillar Myopathy, Childhood Onset via BAG3 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
3-Methylcrotonyl-CoA Carboxylase Deficiency via MCCC2 Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
3-Methylcrotonyl-CoA Carboxylase Deficiency via MCCC1 Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Nemaline Myopathy With Cores (NEM6) via KBTBD13 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Autosomal Recessive Spinocerebellar Ataxia-10 via ANO10 Gene Sequencing with CNV Detection
Sanger Sequencing
$860
Sequencing with CNV
PGxome
$890
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B2 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B5 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Retinitis Pigmentosa via PRPF8 Gene Sequencing with CNV Detection
Sanger Sequencing
$1750
Sequencing with CNV
PGxome
$890
Retinitis Pigmentosa via PRPF3 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Usher Syndrome Type 1 via USH1G Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Amyotrophic Lateral Sclerosis via UBQLN2 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
NSDHL-Related Disorders via NSDHL Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Xeroderma Pigmentosum via DDB2 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Isolated Nonsyndromic Congenital Heart Defects via ZFPM2 (FOG2) Gene Sequencing with CNV Detection
Sanger Sequencing
$930
Sequencing with CNV
PGxome
$890
Maple Syrup Urine Disease Type IA via BCKDHA Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Telethoninopathy via TCAP Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Caveolinopathy via CAV3 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Severe Congenital Neutropenia and Cyclic Neutropenia via ELANE Gene Sequencing with CNV Detection
Sanger Sequencing
$560
Sequencing with CNV
PGxome
$890
Legius Syndrome via SPRED1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Isolated Nonsyndromic Congenital Heart Defects via GATA4 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Junctional Epidermolysis Bullosa via COL17A1 Gene Sequencing with CNV Detection
Sanger Sequencing
$2110
Sequencing with CNV
PGxome
$890
Ventricular Septal Defects, Tetralogy of Fallot via FOXH1 Gene Sequencing with CNV Detection
Sanger Sequencing
$480
Sequencing with CNV
PGxome
$890
Glycogen Storage Disease Type Ia via G6PC Gene Sequencing with CNV Detection
Sanger Sequencing
$590
Sequencing with CNV
PGxome
$890
Miller-Dieker Lissencephaly Syndrome via YWHAE Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Pulmonary Arterial Hypertension (PAH) via BMPR2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1130
Sequencing with CNV
PGxome
$890
Aarskog-Scott Syndrome via FGD1 Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Camurati-Engelmann Disease (CED) via TGFB1 Gene Sequencing with CNV Detection
Sanger Sequencing
$690
Sequencing with CNV
PGxome
$890
Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1) via ARSE Gene Sequencing with CNV Detection
Sanger Sequencing
$790
Sequencing with CNV
PGxome
$890
Combined Pituitary Hormone Deficiency-4 (CPHD-4) via LHX4 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Conradi-Hunermann syndrome via EBP Gene Sequencing with CNV Detection
Sanger Sequencing
$560
Sequencing with CNV
PGxome
$890
Duane-Radial Ray Syndrome and Acro-Renal-Ocular Syndrome via SALL4 Gene Sequencing with CNV Detection
Sanger Sequencing
$730
Sequencing with CNV
PGxome
$890
IRF6-Related Disorders via IRF6 Gene Sequencing with CNV Detection
Sanger Sequencing
$670
Sequencing with CNV
PGxome
$890
Juvenile Paget Disease via TNFRSF11B Gene Sequencing with CNV Detection
Sanger Sequencing
$560
Sequencing with CNV
PGxome
$890
Klippel-Feil Syndrome via GDF6 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Laron Syndrome/Pituitary Dwarfism II (Growth Hormone Insensitivity) via GHR Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Meier-Gorlin Syndrome via ORC4 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Meier-Gorlin Syndrome via ORC6 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Metaphyseal Chondrodysplasia, Schmid Type (MCDS) via COL10A1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Paget Disease of Bone, Autosomal Recessive Osteopetrosis, and Familial Expansile Osteolysis via TNFRSF11A Gene Sequencing with CNV Detection
Sanger Sequencing
$790
Sequencing with CNV
PGxome
$890
Short Stature with or without Partial Isolated Growth Hormone Deficiency via GHSR Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Small Patella Syndrome via TBX4 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL) via DDR2 Gene Sequencing with CNV Detection
Sanger Sequencing
$930
Sequencing with CNV
PGxome
$890
Spondylocostal Dysostosis via LFNG Gene Sequencing with CNV Detection
Sanger Sequencing
$670
Sequencing with CNV
PGxome
$890
Spondylocostal Dysostosis via DLL3 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Townes-Brocks Syndrome via SALL1 Gene Sequencing with CNV Detection
Sanger Sequencing
$890
Sequencing with CNV
PGxome
$890
TP63-Related Disorders via TP63 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Tricho-Rhino-Phalangeal Syndrome Types I & III via TRPS1 Gene Sequencing with CNV Detection
Sanger Sequencing
$860
Sequencing with CNV
PGxome
$890
X-Linked Spondyloepiphyseal Dysplasia Tarda (SEDT) via TRAPPC2 Gene Sequencing with CNV Detection
Sanger Sequencing
$520
Sequencing with CNV
PGxome
$890
Nephronophthisis and Senior-Loken Syndrome via IQCB1/NPHP5 Gene Sequencing with CNV Detection
Sanger Sequencing
$790
Sequencing with CNV
PGxome
$890
Cleidocranial Dysplasia (CCD) via RUNX2 Gene Sequencing with CNV Detection
Sanger Sequencing
$860
Sequencing with CNV
PGxome
$890
Retinitis Pigmentosa via CNGA1 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Primary Ciliary Dyskinesia (PCD) via RPGR Gene Sequencing with CNV Detection
Sanger Sequencing
$1090
Sequencing with CNV
PGxome
$890
X-linked Retinitis Pigmentosa (XLRP) via RPGR (includes ORF15) Gene Sequencing with CNV Detection
Sanger Sequencing
$1090
Sequencing with CNV
PGxome
$890
Holt-Oram Syndrome (HOS) via TBX5 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Primary Microcephaly, Autosomal Recessive, via ASPM Gene Sequencing with CNV Detection
Sanger Sequencing
$2170
Sequencing with CNV
PGxome
$890
Primary Microcephaly, Autosomal Recessive, via MCPH1 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Primary Microcephaly, Autosomal Recessive, via CDK5RAP2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1750
Sequencing with CNV
PGxome
$890
CENPJ-Related Disorders via CENPJ Gene Sequencing with CNV Detection
Sanger Sequencing
$1060
Sequencing with CNV
PGxome
$890
Primary Microcephaly, Autosomal Recessive, via STIL Gene Sequencing with CNV Detection
Sanger Sequencing
$1130
Sequencing with CNV
PGxome
$890
Primary Microcephaly, Autosomal Recessive, via WDR62 Gene Sequencing with CNV Detection
Sanger Sequencing
$1430
Sequencing with CNV
PGxome
$890
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via ACTN2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1060
Sequencing with CNV
PGxome
$890
Hypertrophic Cardiomyopathy and Related Disorders via ACTC1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
FHL1-Myopathies via FHL1 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Nephrogenic Diabetes Insipidus (NDI) via AQP2 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via AVPR2 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Walker-Warburg Syndrome via Glycosyltransferase-Like Domain-Containing Protein 2 (POMGNT2) Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via PKP2 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Heterotaxy and Conotruncal Heart Defects via GDF1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Heterotaxy via LEFTY2 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Isolated Nonsyndromic Congenital Heart Defects via NKX2-5 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
GLI3-Related Disorders via GLI3 Gene Sequencing with CNV Detection
Sanger Sequencing
$1020
Sequencing with CNV
PGxome
$890
Xeroderma Pigmentosum via POLH Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Centronuclear Myopathy-3, Autosomal Dominant via MYF6 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via CSRP3 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Cystathioninuria via CTH Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Walker-Warburg Syndrome via RXYLT1/TMEM5 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Glutathione Synthetase Deficiency via GSS Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Inclusion Body Myopathy and Autosomal Recessive, Early Onset Myopathy via MYH2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1650
Sequencing with CNV
PGxome
$890
Leber Congenital Amaurosis 14 (LCA14) or Early Onset Retinal Dystrophy (EORD) and Juvenile Retinitis Pigmentosa via LRAT Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Neurohypophyseal Diabetes Insipidus (NDI) via AVP Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Epidermolysis Bullosa with Pyloric Atresia via ITGA6 Gene Sequencing with CNV Detection
Sanger Sequencing
$1250
Sequencing with CNV
PGxome
$890
Ectodermal Dysplasia/Skin Fragility Syndrome via PKP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Epidermolysis Bullosa Simplex (EBS) via KRT5 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via ALOX12B Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via NIPAL4 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via CYP4F22 Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via BEST1 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via ABCA12 Gene Sequencing with CNV Detection
Sanger Sequencing
2,670
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via ALOXE3 Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via PNPLA1 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Aniridia via PAX6 Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Treacher Collins Syndrome via POLR1D Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Agnathia-Otocephaly Complex via PRRX1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Gnathodiaphyseal Dysplasia via ANO5 Gene Sequencing with CNV Detection
Sanger Sequencing
$1090
Sequencing with CNV
PGxome
$890
Ornithine Transcarbamylase Deficiency via OTC Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$930
Leber Congenital Amaurosis 4 (LCA4) via AIPL1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Tropomyosin 2-Related Disorders via TPM2 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Weaver Syndrome via EZH2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1090
Sequencing with CNV
PGxome
$890
Klippel-Feil Syndrome via MEOX1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Epidermolysis Bullosa Simplex (EBS) via KRT14 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Achondrogenesis Type 1A via TRIP11 Gene Sequencing with CNV Detection
Sanger Sequencing
$1650
Sequencing with CNV
PGxome
$890
Joubert Syndrome via TMEM138 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Spondyloenchondrodysplasia with Immune Dysregulation via ACP5 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Hyperglycemia and Hypoglycemia via GCK Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
RLBP1-Related Disorders via RLBP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Chronic Pancreatitis via Chymotrypsin C (CTRC) Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa 31 (RP31) via TOPORS Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Joubert Syndrome via TMEM237 Gene Sequencing with CNV Detection
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
Familial Amyloidosis via TTR Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Retinitis Pigmentosa 38 (RP38) via MERTK Gene Sequencing with CNV Detection
Sanger Sequencing
$1220
Sequencing with CNV
PGxome
$890
Meckel-Gruber syndrome via B9D1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Phelan-Mcdermid Syndrome, 22q13 Deletion Syndrome, or Autism Spectrum Disorder via SHANK3 Gene Sequencing with CNV Detection
Sanger Sequencing
$1590
Sequencing with CNV
PGxome
$890
Orotic Aciduria via UMPS Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa 27 (RP27) and Autosomal Recessive Retinal Degeneration, Clumped Pigment Type via NRL Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa 17 (RP17) via CA4 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Ovarian Dysgenesis via BMP15 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Male and Female Infertility via FSHB Gene Sequencing with CNV Detection
Sanger Sequencing
$370
Sequencing with CNV
PGxome
$890
46,XX Disorder of Sex Development (DSD) via WNT4 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
SRY-Related Disorders of Sex Development via SRY Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Nail-Patella Syndrome via LMX1B Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
DHH-related Disorders of Sex Development via DHH Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Familial Amyloidosis via APOA1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via GUCA1A Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa 48 (RP48) via GUCA1B Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
NR5A1-Related Disorders via NR5A1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Waardenburg Syndrome Types I and III via PAX3 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
WFS1-Related Disorders via WFS1 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Waardenburg Syndrome Type IVB via EDN3 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Waardenburg Syndrome Types IIE and IVC via SOX10 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Apparent Mineralocorticoid Excess via HSD11B2 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Walker-Warburg Syndrome via B3GNT1(B4GAT1) Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Dystroglycanopathy via GMPPB Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Bietti Crystalline Corneoretinal Dystrophy via CYP4V2 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Branchiootorenal Syndrome via SIX5 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Branchiootorenal Syndrome via SIX1 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Wolfram Syndrome Type 2 via CISD2 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency via OXCT1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1160
Sequencing with CNV
PGxome
$890
Autosomal Recessive Isolated Ectopia Lentis-2 via ADAMTSL4 Gene Sequencing with CNV Detection
Sanger Sequencing
$1190
Sequencing with CNV
PGxome
$890
SOX2-Related Ocular Disorders via SOX2 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Waardenburg Syndrome Type IID via SNAI2 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Waardenburg Syndrome Type IVA via EDNRB Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
NDP-Related Vitreoretinopathies via NDP Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Hirschsprung Disease 3 (HSCR3) via GDNF Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Hirschsprung Disease 4 (HSCR4) via EDN3 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Hirschsprung Disease 2 (HSCR2) via EDNRB Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Oculocutaneous Albinism Type 1 (OCAI) via TYR Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via TIMM8A Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Goldberg-Shprintzen Megacolon Syndrome via KIAA1279 (KIF1BP) Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
GM2-Gangliosidosis Variant AB via GM2A Gene Sequencing with CNV Detection
Sanger Sequencing
$370
Sequencing with CNV
PGxome
$890
Cherubism via SH3BP2 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Renal Hypomagnesemia 5 via CLDN19 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Familial Amyloidosis (Finnish Type) via GSN Gene Sequencing with CNV Detection
Sanger Sequencing
$1020
Sequencing with CNV
PGxome
$890
Primary Pigmented Nodular Adrenocortical Disease via PDE11A Gene Sequencing with CNV Detection
Sanger Sequencing
$1250
Sequencing with CNV
PGxome
$890
Renal Cysts and Diabetes Syndrome via HNF1B Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Dubin-Johnson Syndrome via ABCC2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1500
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via WDR72 Gene Sequencing with CNV Detection
Sanger Sequencing
$1220
Sequencing with CNV
PGxome
$890
Spondylocostal Dysostosis via HES7 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Long QT Syndrome via KCNE2 Gene Sequencing with CNV Detection
Sanger Sequencing
$370
Sequencing with CNV
PGxome
$890
Popliteal Pterygium Syndrome 2, Lethal Type via RIPK4 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via FAM83H Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Char Syndrome via TFAP2B Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Focal Dermal Hypoplasia (FDH) via PORCN Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Severe Congenital Neutropenia (Dursun Syndrome) via G6PC3 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via DSTYK Gene Sequencing with CNV Detection
Sanger Sequencing
$1020
Sequencing with CNV
PGxome
$890
NR0B1-Related Disorders via NR0B1 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via XIAP/BIRC4 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via SH2D1A Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via MMP20 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via KLK4 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Cone-Rod Dystrophy (CRD11) via RAX2 (Qrx) Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
FRMD7-Associated X-linked Congenital Nystagmus 1 (NYS1) via FRMD7 Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via AMELX Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Protein C Deficiency via PROC Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Chronic Hereditary Pancreatitis via CPA1 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via ATR Gene Sequencing with CNV Detection
Sanger Sequencing
$2450
Sequencing with CNV
PGxome
$890
Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy with or without Sensorineural Deafness) via SLC52A2 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Familial Exudative Vitreoretinopathy 5 (FEVR5) via TSPAN12 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Antithrombin Deficiency via SERPINC1 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Familial Exudative Vitreoretinopathy 1 (FEVR1) via FZD4 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via ENAM Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via ODAPH (C4orf26) Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Pelger-Huet Anomaly and Greenberg Skeletal Dysplasia via LBR Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Pyruvate Kinase Deficiency with Hemolytic Anemia via PKLR Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
X-linked Agammaglobulinemia via BTK Gene Sequencing with CNV Detection
Sanger Sequencing
$1100
Sequencing with CNV
PGxome
$890
Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via FOXL2 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
X-linked Megalocornea 1 (MGC1) via CHRDL1 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Bartter Syndrome Type 2 via KCNJ1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Rotor Syndrome via SLCO1B1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1100
Sequencing with CNV
PGxome
$890
Rotor Syndrome via SLCO1B3 Gene Sequencing with CNV Detection
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
Hypoparathyroidism, Sensorineural Deafness and Renal Disease (HDR) via GATA3 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
PITX2- Related Disorders via PITX2 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
X-Linked Hyper IgM Syndrome via CD40LG Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome via CXCR4 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Peters Plus Syndrome via B3GALTL/B3GLCT Gene Sequencing with CNV Detection
Sanger Sequencing
$1060
Sequencing with CNV
PGxome
$890
Mucopolysaccharidosis Type IVA / Morquio Type A Disease via GALNS Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Primary Familial and Congenital Polycythemia (PFCP) via EPOR Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via DLX3 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Parkinson's Disease, Early Onset via PARK7 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
TGFBI-Associated Corneal Dystrophies via TGFBI Gene Sequencing with CNV Detection
Sanger Sequencing
$1020
Sequencing with CNV
PGxome
$890
Autoimmune Lymphoproliferative Syndrome via FAS Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Congenital Fibrinogen Deficiency via FGA Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Chronic Hereditary Pancreatitis via PRSS1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX13 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Keratoconus and Posterior Polymorphous Corneal Dystrophy via VSX1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via AGT Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via AGTR1 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Autosomal Dominant Stargardt disease (STGD3) via ELOVL4 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Oguchi Disease and Retinitis Pigmentosa (RP47) via SAG Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX19 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Osteopetrosis via CLCN7 Gene Sequencing with CNV Detection
Sanger Sequencing
$1250
Sequencing with CNV
PGxome
$890
Osteogenesis Imperfecta via SP7 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Chronic Hereditary Pancreatitis via SPINK1 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Ectodermal Dysplasia via EDARADD Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Mucopolysaccharidosis Type VII/Sly Syndrome via GUSB Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Osteopetrosis via OSTM1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Hereditary Thrombocythemia via THPO Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Optic Atrophy 7 (OPA7) via TMEM126A Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Hirschsprung Disease via NRTN Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Cone-Rod Dystrophy via KCNV2 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Osteogenesis Imperfecta via IFITM5 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Erythropoietic Protoporphyria via FECH Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Osteogenesis Imperfecta via SERPINF1 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
OculoDentoDigital Dysplasia (ODDD) via GJA1 Gene Sequencing with CNV Detection
Sanger Sequencing
$250
Sequencing with CNV
PGxome
$890
Branchio-Oculo-Facial Syndrome (BOFS) via TFAP2A Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via NR2F1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Protein S Deficiency via PROS1 Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Common Variable Immune Deficiency/IgA Deficiency via TNFRSF13B Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Acute Intermittent Porphyria via HMBS Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation, Type IIj via COG4 Gene Sequencing with CNV Detection
Sanger Sequencing
$1100
Sequencing with CNV
PGxome
$890
Osteogenesis Imperfecta via CRTAP Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Osteogenesis Imperfecta via P3H1 / LEPRE1 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Glucose Phosphate Isomerase Deficiency via GPI Gene Sequencing with CNV Detection
Sanger Sequencing
$1060
Sequencing with CNV
PGxome
$890
Osteogenesis Imperfecta-Bruck Syndrome Type II via PLOD2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1190
Sequencing with CNV
PGxome
$890
Osteogenesis Imperfecta via FKBP10 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Osteogenesis Imperfecta via BMP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1130
Sequencing with CNV
PGxome
$890
Porphyria Cutanea Tarda Type II/Hepatoerythropoietic Porphyria via UROD Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Primary Immunodeficiency via PIK3CD Gene Sequencing with CNV Detection
Sanger Sequencing
$1310
Sequencing with CNV
PGxome
$890
Perrault Syndrome Type 2 via HARS2 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Hermansky-Pudlak Syndrome Type 9 (HPS9) via BLOC1S6/PLDN Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Mucopolysaccharidosis Type IX via HYAL1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Maturity Onset Diabetes of Young (MODY) via PDX1 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ8B/ADCK4 Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ6 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Perrault Syndrome Type 4 via LARS2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1160
Sequencing with CNV
PGxome
$890
Deafness, X-Linked 2 (DFNX2) via POU3F4 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Recessive 24 (DFNB24) via RDX Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
P450 Oxidoreductase Deficiency via POR Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Medullary Cystic Kidney Disease type 2 and Familial Juvenile Hyperuricemic Nephropathy type 1 via UMOD Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
GLUD1-Related Congenital Hyperinsulinism via GLUD1 Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Andersen-Tawil Syndrome/Long QT Syndrome via the KCNJ2 Gene
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Long QT Syndrome and Jervell and Lange-Nielsen Syndrome via KCNE1 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
McLeod Syndrome via XK Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Dystroglycanopathies via POMK Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Congenital Methemoglobinemia via CYB5R3 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Congenital Central Hypoventilation Syndrome (CCHS) via PHOX2A Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Mosaic Variegated Aneuploidy Syndrome via CEP57 Gene Sequencing with CNV Detection
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
X-linked Sideroblastic Anemia via ALAS2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1020
Sequencing with CNV
PGxome
$890
Cowden and Cowden-like Syndromes via PIK3CA Gene Sequencing with CNV Detection
Sanger Sequencing
$1100
Sequencing with CNV
PGxome
$890
Schnyder Crystalline Corneal Dystrophy (SCCD) via UBIAD1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Gelatinous Drop-Like Corneal Dystrophy (GDLD) via TACSTD2 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Hyper IgM Syndrome via AICDA Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Hereditary Motor and Sensory Neuropathy IIB (HMSN2B) via RAB7A Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Hereditary Sensory and Autonomic Neuropathy Type V (HSAN5) via NGF Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Chronic Granulomatous Disease via CYBA Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Syndromic Microphthalmia via OTX2 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
LIG4 Syndrome via LIG4 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Long QT Syndrome via SNTA1 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Fibrodysplasia Ossificans progressiva (FOP) via ACVR1 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Dihydropteridine Reductase (DHPR) Deficiency via QDPR Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Brugada Syndrome via KCNE3 Gene Sequencing with CNV Detection
Sanger Sequencing
$250
Sequencing with CNV
PGxome
$890
Primary Ciliary Dyskinesia (PCD) via CCDC103 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Chronic Granulomatous Disease via NCF2 Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Chronic Joint Pain and Dysfunction via MMP13 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome via FOXP3 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Nephrotic Syndrome via EMP2 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Long QT Syndrome via KCNJ5 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Epimerase Deficiency Galactosemia via GALE Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Iron-Refractory Iron Deficiency Anemia (IRIDA) via TMPRSS6 Gene Sequencing with CNV Detection
Sanger Sequencing
$1280
Sequencing with CNV
PGxome
$890
Hereditary Angioedema via SERPING1 /C1NH Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ2 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Acrofacial Dysostosis 1, Nagar Type via SF3B4 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Congenital Abnormalities of Kidney and Urinary Tract (CAKUT) and VACTERL Association via TRAP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1100
Sequencing with CNV
PGxome
$890
FGFR3-Related Disorders via FGFR3 Gene Sequencing with CNV Detection
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
Perrault Syndrome Type 3 and Deafness, Autosomal Recessive 8 (DFNB8) via CLPP Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Idiopathic Hypogonadotropic Hypogonadism (IHH) via GNRHR Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Idiopathic Hypogonadotropic Hypogonadism (IHH) via GNRH1 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Idiopathic Hypogonadotropic Hypogonadism (IHH) via KISS1 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Idiopathic Hypogonadotropic Hypogonadism (IHH) via KISS1R Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Idiopathic Hypogonadotropic Hypogonadism (IHH) via TAC3 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Idiopathic Hypogonadotropic Hypogonadism (IHH) via TACR3 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Saethre-Chotzen Syndrome via TWIST1 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Peripheral Neuropathies via HINT1 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Familial Hypocalciuric Hypercalcemia (FHH) via AP2S1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Severe Congenital Neutropenia and Neutrophilia via CSF3R Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Brugada Syndrome via SCN3B Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Thrombocytopenia via CYCS Gene Sequencing with CNV Detection
Sanger Sequencing
$370
Sequencing with CNV
PGxome
$890
Osteopetrosis via SNX10 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Hyaline Fibromatosis Syndrome via ANTXR2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1060
Sequencing with CNV
PGxome
$890
X-Linked Complete Congenital Stationary Night Blindness (CSNB1) via NYX Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Hypophosphatemia, X-Linked, via PHEX Gene Sequencing with CNV Detection
Sanger Sequencing
$1190
Sequencing with CNV
PGxome
$890
Oocyte Maturation Defect (OOMD) via ZP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Tooth Agenesis via PAX9 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Brugada Syndrome via GPD1L Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Dihydropyrimidinase deficiency via DPYS Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Craniosynostosis via MSX2 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via EFEMP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Increased Pain Sensitivity via COMT Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Osteogenesis Imperfecta via SERPINH1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
GAPO Syndrome via ANTXR1 Gene Sequencing with CNV Detection
Sanger Sequencing
1,100
Sequencing with CNV
PGxome
$890
Isolated Foveal Hypoplasia Type 2 (FVH2) via SLC38A8 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Congenital Hypothyroidism (Thyroid Dysgenesis) via NKX2-1/TTF1 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via NOG Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Congenital Hypothyroidism (Thyroid Stimulating Hormone Deficiency) via TSHB Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
X-linked Lenz Microphthalmia Syndrome and Lethal Ogden Syndrome via NAA10 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Nephronophthisis and Situs Inversus via ANKS6 Gene Sequencing with CNV Detection
Sanger Sequencing
$1020
Sequencing with CNV
PGxome
$890
Macular Corneal Dystrophy (MCD) via CHST6 Gene Sequencing with CNV Detection
Sanger Sequencing
$370
Sequencing with CNV
PGxome
$890
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via IYD/DEHAL1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via DUOXA2 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Posterior Microphthalmia via PRSS56 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Long QT Syndrome via SCN4B Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Renal Hypodysplasia (RHD) via SIX2 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Familial Isolated Hypoparathyroidism via PTH Gene Sequencing with CNV Detection
Sanger Sequencing
$370
Sequencing with CNV
PGxome
$890
PMP22-Related Neuropathies via PMP22 Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Thromboxane A2 Receptor Deficiency via TBXA2R Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
IL-12 Receptor B1 Deficiency via IL12RB1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1220
Sequencing with CNV
PGxome
$890
Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via CTC1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1220
Sequencing with CNV
PGxome
$890
Retinitis Pigmentosa via PRPH2 (RDS) Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Congenital Central Hypoventilation Syndrome (CCHS) via ASCL1 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Fish-Eye Disease and Norum Disease via LCAT Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Aceruloplasminemia via CP Gene Sequencing with CNV Detection
Sanger Sequencing
$1220
Sequencing with CNV
PGxome
$890
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via TUBB3 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Limb Girdle Muscular Dystrophy Type 2W (LGMD2W) via LIMS2 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Congenital Central Hypoventilation Syndrome (CCHS) via BMP2 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Urofacial Syndrome 2 via LRIG2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1100
Sequencing with CNV
PGxome
$890
Urofacial Syndrome 1 via HPSE2 Gene Sequencing with CNV Detection
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
Karyomegalic Tubulointerstitial Nephritis (KTN) via FAN1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1100
Sequencing with CNV
PGxome
$890
Globozoospermia via SPATA16 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Homocystinuria, cblG Type, via MTR Gene Sequencing with CNV Detection
Sanger Sequencing
$1650
Sequencing with CNV
PGxome
$890
Homocystinuria, cblE Type, via MTRR Gene Sequencing with CNV Detection
Sanger Sequencing
$1060
Sequencing with CNV
PGxome
$890
Charcot Marie Tooth Disease via COX6A1 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
REEP1-Related Disorders via REEP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Surfactant Protein C Deficiency via SFTPC Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Maturity Onset Diabetes of Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via NEUROD1 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Achromatopsia (ACHM) via GNAT2 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Van Maldergem Syndrome (Cerebro-Facio-Articular Syndrome) via DCHS1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1900
Sequencing with CNV
PGxome
$890
Methylmalonic Aciduria and/or Homocystinuria via CD320 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
MPZ-Related Neuropathies via MPZ Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Juvenile Hereditary Hemochromatosis via HAMP Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Sengers Syndrome via AGK Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Maturity Onset Diabetes of Young (MODY) via KLF11 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
6-Pyruvoyltetrahydropterin Syntase (PTPS) Deficiency via PTS Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Sepiapterin Reductase (SR) Deficiency via SPR Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Homocystinuria via CBS Gene Sequencing with CNV Detection
Sanger Sequencing
$1100
Sequencing with CNV
PGxome
$890
Methylmalonic Aciduria and Homocystinuria, cblD Type, via MMADHC Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Craniosynostosis and Dental Anomalies, Autosomal Recessive Crouzon-like Craniosynostosis via IL11RA Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Tyrosinemia, Type II via TAT Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Pyruvate Dehydrogenase E1α Deficiency via PDHA1 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Pyruvate Dehydrogenase E2 Deficiency via DLAT Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Pyruvate Dehydrogenase Phosphatase Deficiency via PDP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Pyruvate Dehydrogenase E3-Binding Protein (E3BP) Deficiency via PDHX Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via PCK1 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Mitochondrial Phosphoenolpyruvate Carboxykinase 2 Deficiency via PCK2 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Pyruvate Carboxylase Deficiency via PC Gene Sequencing with CNV Detection
Sanger Sequencing
$1160
Sequencing with CNV
PGxome
$890
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency via LIAS Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
TSFM-Related Combined Oxidative Phosphorylation Deficiency via TSFM Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
MRPL3-Related Combined Oxidative Phosphorylation Deficiency via MRPL3 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Ectodermal Dysplasia via WNT10A Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Osteopetrosis via TNFSF11 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
HESX1-Related Disorders via HESX1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Cataract Type 11 via PITX3 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Atrial Fibrillation via GJA5 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Renal Hypouricemia Type 2 via SLC2A9 Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-Related Disorders via TWNK/C10orf2 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via SLC16A2 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Thiamine Responsive Megaloblastic Anemia via SLC19A2 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
DGUOK-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via DGUOK Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Recessive 29 (DFNB29) via CLDN14 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Congenital Cataracts and Ayme-Gripp Syndrome via MAF Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Usher Syndrome Type IJ and Deafness, Autosomal Recessive 48 (DFNB48) via CIB2 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Triosephosphate Isomerase Deficiency via TPI1 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Primordial Dwarfism via POC1A Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
3-M Syndrome via CCDC8 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Recessive 6 (DFNB6) via TMIE Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Recessive 67 (DFNB67) via LHFPL5 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Craniofrontonasal Syndrome via EFNB1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Anti-Plasmin Deficiency via SERPINF2 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Cone-Rod Dystrophy via CABP4 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Familial Platelet Function Disorder via GP6 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Combined Factor V and Factor VIII Deficiency via MCFD2 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Congenital Factor XIII Deficiency via F13B Gene Sequencing with CNV Detection
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
Factor VII Deficiency via F7 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Fundus Albipunctatus With or Without Cone Dystrophy via RDH5 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Cone-Rod Dystrophy via UNC119 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Oculocutaneous Albinism Type 6 (OCAVI) via SLC24A5 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Oculocutaneous Albinism Type 7 (OCAVII) via LRMDA (C10orf11) Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Congenital Hypothyroidism (Thyrotropin-Releasing Hormone Deficiency) via TRH Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
ADP Receptor Deficiency via P2RY12 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Dilated Cardiomyopathy via LAMA4 Gene Sequencing with CNV Detection
Sanger Sequencing
$1750
Sequencing with CNV
PGxome
$930
Dilated Cardiomyopathy via NEXN Gene Sequencing with CNV Detection
Sequencing with CNV
PGxome
$890
Dilated Cardiomyopathy via RBM20 Gene Sequencing with CNV Detection
Sanger Sequencing
$1380
Sequencing with CNV
PGxome
$890
Neuronal Ceroid Lipofuscinosis 13 via CTSF Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Primary Ciliary Dyskinesia (PCD) via DNAAF5 (HEATR2) Gene Sequencing with CNV Detection
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
FBXL4-Related Mitochondrial DNA Depletion Syndrome via FBXL4 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
UCP2-Related Congenital Hyperinsulinism via UCP2 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Recessive 8 (DFNB8) and Deafness, Autosomal Recessive 10 (DFNB10) via TMPRSS3 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
MGME1-Related Mitochondrial DNA Depletion Syndrome via MGME1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia via FGF3 Gene Sequencing with CNV Detection
Sanger Sequencing
$590
Sequencing with CNV
PGxome
$890
Nephronophthisis and Senior-Loken Syndrome via CEP164 Gene Sequencing with CNV Detection
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Recessive 49 (DFNB49) via MARVELD2 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Recessive 15 (DFNB15) via GIPC3 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Dominant 15 (DFNA15) via POU4F3 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Hypertrophic Cardiomyopathy via MYBPC3 Gene Sequencing with CNV Detection
Sanger Sequencing
$1380
Sequencing with CNV
PGxome
$890
Glycogen Storage Disease Type III via AGL Gene Sequencing with CNV Detection
Sanger Sequencing
$1590
Sequencing with CNV
PGxome
$890
Glycogen Storage Disease Type IX via PHKB Gene Sequencing with CNV Detection
Sanger Sequencing
$1540
Sequencing with CNV
PGxome
$890
Joubert Syndrome via AHI1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1340
Sequencing with CNV
PGxome
$890
Joubert and Meckel-Gruber Syndromes via RPGRIP1L Gene Sequencing with CNV Detection
Sanger Sequencing
$1390
Sequencing with CNV
PGxome
$890
Joubert and Meckel-Gruber Syndromes via CC2D2A Gene Sequencing with CNV Detection
Sanger Sequencing
$1650
Sequencing with CNV
PGxome
$890
Glycogen Storage Disease Type IX via PHKA2 Gene Sequencing with CNV Detection
Sanger Sequencing
$1540
Sequencing with CNV
PGxome
$890
Glycogen Storage Disease Type IX via PHKA1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1650
Sequencing with CNV
PGxome
$890
Joubert Syndrome via CPLANE1 (C5orf42) Gene Sequencing with CNV Detection
Sanger Sequencing
$2480
Sequencing with CNV
PGxome
$890
Cone-Rod Dystrophy via CNNM4 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via KIF7 Gene Sequencing with CNV Detection
Sanger Sequencing
$1310
Sequencing with CNV
PGxome
$890
Familial Hypercholesterolemia via PCSK9 Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Renal Hypomagnesemia 3 via CLDN16 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Slow Acetylation, Drug-Induced Hepatotoxicity, and Other Adverse Drug Reactions via NAT2 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Thiopurine S-Methyltransferase (TPMT) Deficiency via TPMT Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) via FAM111B Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Frontonasal Dysplasia (Frontorhiny) via ALX3 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Autosomal Recessive Transient Infantile Liver Failure (LFIT) via TRMU Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Primary Ciliary Dyskinesia (PCD) via CCNO Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Atrial Fibrillation Syndrome via KCNA5 Gene Sequencing with CNV Detection
Sanger Sequencing
$250
Sequencing with CNV
PGxome
$890
Cataract 9, Multiple Types (CTRCT9) via CRYAA Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Osteogenesis Imperfecta via WNT1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
SURF1-Related Leigh Syndrome (LS) via SURF1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Recessive 63 (DFNB63) via LRTOMT Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Van der Woude Syndrome (VWS) via GRHL3 Gene Sequencing with CNV Detection
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
KLICK Syndrome via POMP Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Autosomal Recessive Mitochondrial Pyruvate Carrier Deficiency (MPYCD) via MPC1 (BRP44L) Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Cataract 23 (CTRCT23) via CRYBA4 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Cataract 17, Multiple Types (CTRCT17) via CRYBB1 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome via CALM1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
NDUFA2-Related Leigh Syndrome (LS) via NDUFA2 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
TACO1-Related Leigh Syndrome (LS) via TACO1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Cataract 3, Multiple Types (CTRCT3) via CRYBB2 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Cataract 22, Multiple Types (CTRCT22) via CRYBB3 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Cataract Type 2 (CTRCT2) via CRYGC Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Primordial Dwarfism via LARP7 Gene Sequencing with CNV Detection
Sanger Sequencing
$1060
Sequencing with CNV
PGxome
$890
Infantile Leukoencephalopathy Due to Mitochondrial Complex II Deficiency via SDHAF1 Gene Sequencing with CNV Detection
Sanger Sequencing
$370
Sequencing with CNV
PGxome
$890
Hypertension and Brachydactyly Syndrome via PDE3A Gene Sequencing with CNV Detection
Sanger Sequencing
$1190
Sequencing with CNV
PGxome
$890
Left Ventricular Noncompaction (LVNC) via DTNA Gene Sequencing with CNV Detection
Sanger Sequencing
$1190
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 4 via SPAST Gene Sequencing with CNV Detection
Sanger Sequencing
$1100
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Dominant 4B (DFNA4B) via CEACAM16 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 11 via SPG11 Gene Sequencing with CNV Detection
Sanger Sequencing
$2300
Sequencing with CNV
PGxome
$890
Glutaric Acidemia Type II via ETFB Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Methylmalonic Aciduria and Homocystinuria, cblF type, via LMBRD1 Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Dominant 40 (DFNA40) via CRYM Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Dominant 20 (DFNA20) via ACTG1 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 72 via REEP2 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Methlymalonyl-CoA Epimerase Deficiency via MCEE Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Phenylalanine Hydroxylase Deficiency via PAH Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 61 via ARL6IP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 6 via NIPA1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Glycogen Storage Disease Type X via PGAM2 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Opitz G/BBB Syndrome Type 1 via MID1 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Spinocerebellar Ataxia 21 via TMEM240 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Primary Immunodeficiency via IRAK4 Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Atrial Fibrillation Syndrome via NPPA Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Mitochondrial Complex I Deficiency via NDUFV1 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Methylmalonic Acidemia, cblA type, via MMAA Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
SUCLA2 -Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via SUCLA2 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 8 via WASHC5/KIAA0196 Gene Sequencing with CNV Detection
Sanger Sequencing
$1470
Sequencing with CNV
PGxome
$890
Hereditary Spastic Paraplegia via ATP2B4 (PMCA4) Gene Sequencing with CNV Detection
Sequencing with CNV
PGxome
$890
Charcot-Marie-Tooth Type 4D via NDRG1 Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Dimethylglycine Dehydrogenase Deficiency via DMGDH Gene Sequencing with CNV Detection
Sequencing with CNV
PGxome
$890
Ectodermal Dysplasia via NECTIN1 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
β-Mannosidase Deficiency via MANBA Gene Sequencing with CNV Detection
Sanger Sequencing
$1250
Sequencing with CNV
PGxome
$890
Glycine N-Methyltransferase Deficiency via GNMT Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Chondrodysplasia with Joint Dislocations/Catel–Manzke Syndrome via IMPAD1 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Mitochondrial Complex V Deficiency via ATPAF2 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Mitochondrial Complex V Deficiency via ATP5F1E (ATP5E) Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Sitosterolemia via ABCG5 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Dominant 2B (DFNA2B) via GJB3 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 21 (Mast Syndrome) via SPG21(ACP33) Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Recessive 74 (DFNB74) via MSRB3 Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 53 via VPS37A Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Methionine Adenosyltransferase I/III Deficiency via MAT1A Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Mitochondrial Phosphate Carrier Deficiency via SLC25A3 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
S-Adenosylhomocysteine Hydrolase Deficiency via AHCY Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via SLC25A4 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Mitochondrial Complex V Deficiency via ATP5F1A (ATP5A1) Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 59 via USP8 Gene Sequencing with CNV Detection
Sanger Sequencing
$1220
Sequencing with CNV
PGxome
$890
Leigh Syndrome Associated with Isolated Complex I Deficiency via NDUFA12 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Primordial Dwarfism via XRCC4 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Duane Retraction Syndrome Type 2 via CHN1 Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via NDUFAF2 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Recessive 25 (DFNB25) via GRXCR1 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Deafness, X-Linked 4 (DFNX4) via SMPX Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Recessive 91 (DFNB91) via SERPINB6 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Dominant 64 (DFNA64) via DIABLO Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Dominant 25 (DFNA25) via SLC17A8 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Gyrate Atrophy of Choroid and Retina via OAT Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Alexander Disease via GFAP Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Glycogen Storage Disease Type II (Pompe Disease) via GAA Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
AIFM1-Related Disorders via AIFM1 Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
LAS1L-Related Disorders via LAS1L Gene Sequencing with CNV Detection
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 20 (Troyer Syndrome) via SPART (SPG20) Gene Sequencing with CNV Detection
Sequencing with CNV
PGxome
$890
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via NDUFS7 Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Mitochondrial Complex I Deficiency via NDUFA11 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via NDUFA9 Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Mitochondrial Complex I Deficiency via NDUFAF4 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Mitochondrial Complex I Deficiency via NDUFB9 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Mitochondrial Complex I Deficiency via NDUFB3 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Mitochondrial Complex I Deficiency via NDUFV2 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Sorsby Fundus Dystrophy via TIMP3 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Mitochondrial Complex I Deficiency via NDUFAF1 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Mitochondrial Complex I Deficiency via NDUFS4 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Primary Microcephaly, Autosomal Recessive, via CEP152 Gene Sequencing with CNV Detection
Sanger Sequencing
$1490
Sequencing with CNV
PGxome
$890
Diaphanospondylodysostosis via BMPER Gene Sequencing with CNV Detection
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 54 via DDHD2 Gene Sequencing with CNV Detection
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 28 via DDHD1 Gene Sequencing with CNV Detection
Sanger Sequencing
$1220
Sequencing with CNV
PGxome
$890
Brachydactyly via CHSY1 Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Mitochondrial Complex III Deficiency via UQCRQ Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Autosomal Recessive Retinitis Pigmentosa via FLVCR1 Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Limb Girdle Muscular Dystrophy Type 2Y via TOR1AIP1 Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Mitochondrial Complex III Deficiency via UQCRC2 Gene Sequencing with CNV Detection
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
Mitochondrial Complex III Deficiency via UQCRB Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 12 via RTN2 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Mitochondrial Complex III Deficiency via UQCC3 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 62 via ERLIN1 Gene Sequencing with CNV Detection
Sequencing with CNV
PGxome
$890
Spastic Paraplegia 18 via ERLIN2 Gene Sequencing with CNV Detection
Sequencing with CNV
PGxome
$890
Mitochondrial Complex III Deficiency via UQCC2 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Mitochondrial Complex III Deficiency via TTC19 Gene Sequencing with CNV Detection
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Mitochondrial Complex III Deficiency via LYRM7 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Mitochondrial Complex III Deficiency via CYC1 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Kenny-Caffey Syndrome Type 2 via FAM111A Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
GYG1-Related Disorders via GYG1 Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Retinitis Pigmentosa 7 via ROM1 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
3-Methylglutaconic Aciduria Type I via AUH Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Deafness, Autosomal Dominant 69 (DFNA69), and Familial Progressive Hyperpigmentation with or without Hypopigmentation via KITLG Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa via PRPF6 Gene Sequencing with CNV Detection
Sequencing with CNV
PGxome
$890
Cutis Laxa via LTBP4 Gene Sequencing with CNV Detection
Sanger Sequencing
$1440
Sequencing with CNV
PGxome
$890
Dental Anomalies and Amelogenesis Imperfecta via LTBP3 Gene Sequencing with CNV Detection
Sanger Sequencing
$1560
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa via SNRNP200 Gene Sequencing with CNV Detection
Sequencing with CNV
PGxome
$890
Epidermolytic Hyperkeratosis via KRT1 Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Ichthyosis Bullosa, Siemens via KRT2 Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Primary Aldosteronism via CACNA1D Gene Sequencing with CNV Detection
Sequencing with CNV
PGxome
$890
Pantothenate Kinase-Associated Neurodegeneration (PKAN, Hallervorden-Spatz Disease) via PANK2 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Mitochondrial Complex IV Deficiency via COX20 Gene Sequencing with CNV Detection
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Mitochondrial Complex V Deficiency via TMEM70 Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Mitochondrial Complex IV Deficiency via COA5 Gene Sequencing with CNV Detection
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
PLA2G6-Associated Neuroderation, Infantile Neuroaxonal Dystrophy and Parkinson Disease via PLA2G6 Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Hereditary Folate Malabsorption via SLC46A1 Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Mitochondrial Membrane Protein-Associated Neurodegeneration via C19orf12 Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Palmoplantar Keratoderma, Epidermolytic via KRT9 Gene Sequencing with CNV Detection
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Distal Arthrogryposis Type 7 (Trismus-Pseudocamptodactyly Syndrome) via MYH8 Gene Sequencing with CNV Detection
Sanger Sequencing
$1620
Sequencing with CNV
PGxome
$890
Galactosialidosis via CTSA Gene Sequencing with CNV Detection
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Charcot-Marie-Tooth Type 2E/1F via NEFL Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Charcot-Marie-Tooth 1C via LITAF Gene Sequencing with CNV Detection
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Hypomagnesemia via FXYD2 Gene Sequencing with CNV Detection
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Argininemia via ARG1 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Mitochondrial Hypomagnesemia via SARS2 Gene Sequencing with CNV Detection
Sequencing with CNV
PGxome
$890
Intellectual Disability, X-linked, Claes-Jensen Type via KDM5C Gene Sequencing with CNV Detection