HEALTH SCREENINGS

Acute Intermittent Porphyria; HMBS mutation c.107_110delACAG
Acute Intermittent Porphyria; HMBS mutation c.826-1G>A
Acute Intermittent Porphyria; HMBS mutation: c.189dupT
Acute Intermittent Porphyria; HMBS mutation: c.844delGAG
Autoimmune Lymphoproliferative Syndrome
Blood-brain Barrier Dysfunction, MDR1 / ABCB1
Chylomicronemia, Lipoprotein Lipase Deficiency
Congenital Adrenal Hyperplasia
Congenital Erythropoietic Porphyria; UROS mutation: c.331G>A
Congenital Hypotrichosis with Short Life Expectancy
Congenital Myasthenic Syndrome (CMS)
Cystinuria; SCL3A1 mutation
Cystinuria; SCL7A9 mutation: c.1175C>T
Cystinuria; SCL7A9 mutation: c.706G>A
Cystinuria; SCL7A9 mutation: c.881A>T
Dihydropyrimidinuria
Factor XII Deficiency
Glycogen Storage Disease Type IV
GM1 Gangliosidosis
GM2 Gangliosidosis, Domestic Shorthair HEXB mutation: c.1467_1491inv
GM2 Gangliosidosis; Domestic Shorthair GM2A mutation
Hemophilia B; F9 mutation: c.1014C>T
Hemophilia B; F9 mutation: c.247G>A
Hyperoxaluria
Hypertrophic Cardiomyopathy
Mucopolysaccharidosis Type I (MPS I)
Mucopolysaccharidosis Type VI (MPS VI), Typical Form
Mucopolysaccharidosis Type VII; GUSB mutation: c.1074G>A
Mucopolysaccharidosis VII; GUSB mutation: c.C1424T
Myotonia Congenita
Niemann-Pick C1, NPC Disease, Sphingomyelinosis; NPC1 mutation: c.2865G>C
Niemann-Pick C2, NPC Disease, Sphingomyelinosis; NPC2 Mutation
Osteochondrodysplasia and Folded Ears; TRPV4 mutation
Periodic Hypokalemic Polymyopathy, Burmese Hypokalemia, or Familial Episodic Hypokalaemic Polymyopathy
Polycystic Kidney Disease
Pyruvate Kinase (PK) Deficiency
Retinal Dystrophy (rdAc)
Spinal Muscular Atrophy (SMA)/Spinal Muscular Dystrophy
Vitamin D-Dependent Rickets (VDDR-1A); CYP27B mutation: c.G637T