Genetic Tests by Disorder

C3 Glomerulopathy

Cafe au lait Macules with Pulmonary Stenosis

CAH

Calpainopathy

Campomelic Dysplasia

Cardiac Arrhythmia, Ankyrin B-related

Cardiofaciocutaneous Syndrome

Cardiomyopathy

Carney Complex

Cartilage Hair Hypoplasia

Cataract

Cataract, Autosomal Recessive Congenital

Catecholaminergic polymorphic ventricular tachycardia

CDC73-Related Disorders

Cerebral Cavernous Malformation

Cerebral Folate Deficiency

Cerebrotendinous Xanthomatosis

Charcot Marie Tooth Disease

CHARGE Association

Chilbain Lupus

Childhood Myocerebrohepatopathy Spectrum

Cholecystitis

Cholestanol Storage Disease

Cholestasis of Pregnancy

Cholestasis, Progressive Familial Intrahepatic

Chronic Granulomatous Disease

Chronic Infantile Neurological, Cutaneous and Articular Syndrome

Citrin Deficiency

Classic Ehlers-Danlos Syndrome

Cleidocranial Dysplasia Spectrum Disorder

Clove Syndrome

Cockayne Syndrome

Coffin-Lowry Syndrome

Cohen Syndrome

COL1A1/2-Related Osteogenesis Imperfecta

Combined Pituitary Hormone Deficiency

Congenital Adrenal Hyperplasia

Congenital Bile Acid Synthesis Defect

Congenital Cataracts, Facial Dysmorphism and Neuropathy

Congenital Central Hypoventilation

Congenital Erythropoietic Porphyria

Congenital Hyperinsulinism

Congenital Insensitivity to Pain

Congenital Lipomatous Overgrowth, Vascular Malformations and Epidermal Nevi

Congenital Malabsorptive Diarrhea

Congenital Microvillous Atrophy

Congenital Muscular Hypertrophy - Cerebral Syndrome

Congenital Myasthenic Syndrome

Congenital Myopathy with Fiber Type Disproportion

Congenital Nongoitrous Hypothyroidism

Congenital Pancreatic Agenesis

Conotruncal Heart Malformations

Cornelia de Lange Syndrome

Cortical Dysplasia-Focal Epilepsy

Costello Syndrome

Cowden Syndrome

Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome

Creatine Deficiency

Creatine Phosphokinase, Elevated Serum

Crigler Najjar Syndrome

Cyclical Neutropenia

Cystinosis

Cytochrome P450 Oxidoreductase Deficiency