Genetic Tests by Disorder

PAFAH1B1-Related Lissencephaly

Paragangliomas

Parkinson Disease

Paroxysmal Extreme Pain Disorder

Paroxysmal Familial Ventricular Fibrillation

Pendred Syndrome

Periodic Fever

Perlman Syndrome

Permanent Neonatal Diabetes Mellitus

Persistent Hyperinsulinemic Hypoglycemia of Infancy

Pfeiffer Syndrome

Phenylketonuria

Pheochromocytoma

Phosphorylase Kinase Deficiency

Pigmentary Pallidal Degeneration

Pitt-Hopkins Syndrome

PLP1-Related Disorders

POLR3-Related Leukodystrophy

Polycystic Kidney Disease, Autosomal Dominant

Polycystic Kidney Disease, Autosomal Recessive

Porokeratosis, Disseminated Superficial Actinic

Posterior Polar Cataract

Precocious Puberty

Primary Autosomal Recessive Microcephaly

Primary Congenital Glaucoma

Primary Dilated Cardiomyopathy

Primary Erythermalgia

Primary Hyperoxaluria Type 1

Primordial Dwarfism

Progressive Familial Heart Block

Progressive Familial Intrahepatic Cholestasis

Progressive Myoclonus Epilepsy, Lafora Type

Prolidase Deficiency

Proopiomelanocortin Deficiency

Propionic Acidemia

Proprotein Convertase 1/3 Deficiency

Proteus Syndrome

PRSS1-Related Hereditary Pancreatitis

Pseudohypoaldosteronism

Pseudoxanthoma Elasticum

Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

PTEN Hamartoma Tumor Syndrome

Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

Pyridoxal 5'-Phosphate-Dependent Epilepsy

Pyridoxamine 5'-Phosphate Oxidase Deficiency

Pyruvate Kinase Deficiency