NPRD (National Policy for Rare Diseases)
| Group Type | Disease Names |
| group 1a | Mucopolysaccharoidosis (MPS) type I |
| group 1a | Adrenoleukodystrophy |
| group 1a | Severe Combined Immunodeficiency (SCID) |
| group 1a | Chronic Granulomatous disease |
| group 1a | Wiskot Aldrich Syndrome |
| group 1a | Osteopetrosis |
| group 1a | Fanconi Anemia |
| group 1a | Laron’s Syndrome |
| group 1 | Glanzmann Thrombasthenia Disease |
| group 1 | Congenital Hyperinsulinemic Hypoglycemia (CHI) |
| group 1 | Familial Homozygous Hypercholesterolemia |
| group 1 | Mannosidosis |
| group 1 | XY Disorder of Sex Development due to 5 alpha reductase deficiency, partial androgen insensitivity syndrome |
| group 1bLT | Tyrosinemia |
| group 1bLT | Glycogen storage disorders (GSD) I, III and IV |
| group 1bLT | MSUD (Maple Syrup Urine Disease) |
| group 1bLT | Urea cycle disorders |
| group 1bLT | Organic acidemias |
| group 1bRT | Fabry disease |
| group 1bRT | Autosomal recessive Polycystic Kidney Disease (ARPKD) |
| group 1bRT | Autosomal dominant Polycystic Kidney Disease (ADPKD) |
| group 1bLRT | Rarely Methyl Malonicaciduria |
| group 2a | Phenylketonuria (PKU) |
| group 2a | Non-PKU hyperphenylalaninemia conditions |
| group 2a | Maple Syrup Urine Disease (MSUD) |
| group 2a | Tyrosinemia type 1 and 2 |
| group 2a | Homocystinuria |
| group 2a | Urea Cycle Enzyme defects |
| group 2a | Glutaric Aciduria type 1 and 2 |
| group 2a | Methyl Malonic Acidemia |
| group 2a | Propionic Acidemia |
| group 2a | Isovaleric Acidemia |
| group 2a | Leucine sensitive hypoglycemia |
| group 2a | Galactosemia |
| group 2a | Glucose galactose malabsorbtion |
| group 2a | Severe Food protein allergy |
| group 2b | NTBC for Tyrosinemia Type 1 |
| group 2b | Osteogenesis Imperfecta – Bisphosphonates therapy |
| group 2b | Growth Hormone therapy for proven GH deficiency, Prader Willi Syndrome, Turner syndrome and Noonan syndrome. |
| group 2b | Cystic Fibrosis- Pancreatic enzyme supplement |
| group 2b | Primary Immune deficiency disorders -Intravenous immunoglobulin and sub cutaneous therapy (IVIG) replacement eg. X-linked agammablobulinemia etc. |
| group 2b | Wilson’s Disease |
| group 2b | Congenital Adrenal Hyperplasia (CAH) |
| group 2b | Neonatal Onset Multisystem Inflammatory Disease ( NOMID) |
| group 3a | Gaucher Disease (Type I & III {without significant neurological impairment}) |
| group 3a | Hurler Syndrome [Mucopolysaccharisosis (MPS) Type I] (attenuated forms) |
| group 3a | Hunter syndrome (MPS II) (attenuated form) |
| group 3a | Pompe Disease (Both infantile & late onsetdiagnosed early before development of complications) |
| group 3a | Fabry Disease diagnosed before significant end organ damage. |
| group 3a | MPS IVA before development of disease complications. |
| group 3a | MPS VI before development of disease complications. |
| group 3a | DNAase for Cystic Fibrosis. |
| group 3a | Cystinosis |
| group 3a | Hereditary Angioedema |
| group 3b | Cystic Fibrosis (Potentiators) |
| group 3b | Duchenne Muscular Dystrophy (Antesensce oligoneucletides, PTC) |
| group 3b | Spinal Muscular Atrophy (Antisense oligonucleotides both intravenous & oral & gene therapy) |
| group 3b | Wolman Disease |
| group 3b | Hypophosphatasia |
| group 3b | Neuronal ceroid lipofuschinosis |
| group 3b | Hypophosphatic Rickets |
| group 3b | Atypical Hemolytic Uremic Syndrome (AHUS) |
