Genetic Tests by Disorder

Aceruloplasminemia

Acromicric Dysplasia

ACTH Deficiency

Adenosine Deaminase Deficiency

Adrenocorticotropic Hormone Deficiency

Adult i Blood Group with or without Congenital Cataract

Aicardi Goutieres Syndrome

Alagille Syndrome

Alpers-Huttenlocher Syndrome

Alpha-Mannosidosis

Alpha-Methylacyl-CoA Racemase Deficiency

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

Alport syndrome

Amyloidogenic Transthyretin Amyloidosis

Anauxetic Dysplasia

Andersen Tawil Syndrome

Androgen Insensitivity Syndrome

Angelman Syndrome

Anophthalmia and Microphthalmia

Aortic Valve Disease

AP-4 Associated Hereditary Spastic Paraplegia

Arginine Glycine Amidinotransferase Deficiency

Arrhythmogenic Right Ventricular Cardiomyopathy

Arthrogryposis Multiplex

Arthrogryposis Renal Dysfunction Cholestasis Syndrome

Ataxia Neuropathy Spectrum

Ataxia Telangiectasia

Ataxia with Oculomotor Apraxia Type 2

Ateleiotic Dwarfism

ATP7A-Related Copper Transport Disorders

Atrial Fibrillation, Familial

Atrial Septal Defect

Atrioventricular Septal Defect

Autoimmune Lymphoproliferative Syndrome

Autosomal Dominant Epilepsy with Auditory Features

Autosomal Dominant Progressive External Ophthalmoplegia

Autosomal Idiopathic Short Stature

Autosomal Recessive Congenital Ichthyosis

Autosomal Recessive Progressive External Ophthalmoplegia