- Acute Leukemia
- Adrenal Cancer – with distant metastases or inoperable, unresectable or recurrent
- Adult Non-Hodgkin Lymphoma
- Adult Onset Huntington Disease
- Aicardi-Goutieres Syndrome
- Alexander Disease (ALX) – Neonatal and Infantile
- Allan-Herndon-Dudley Syndrome
- Alobar Holoprosencephaly
- Alpers Disease
- Alpha Mannosidosis – Type II and III
- ALS/Parkinsonism Dementia Complex
- Alstrom Syndrome
- Alveolar Soft Part Sarcoma
- Amegakaryocytic Thrombocytopenia
- Amyotrophic Lateral Sclerosis (ALS)
- Anaplastic Adrenal Cancer – Adult with distant metastases or inoperable, unresectable or recurrent Angelman Syndrome
- Angiosarcoma
- Aortic Atresia
- Aplastic Anemia
- Astrocytoma – Grade III and IV
- Ataxia Telangiectasia
- Atypical Teratoid/Rhabdoid Tumor
- Batten Disease
- Beta Thalassemia Major
- Bilateral Optic Atrophy- Infantile
- Bilateral Retinoblastoma
- Bladder Cancer – with distant metastases or inoperable or unresectable
- Breast Cancer – with distant metastases or inoperable or unresectable
- Canavan Disease (CD)
- CACH–Vanishing White Matter Disease-Infantile and Childhood Onset Forms
- Carcinoma of Unknown Primary Site
- Cardiac Amyloidosis- AL Type
- Caudal Regression Syndrome – Types III and IV
- CDKL5 Deficiency Disorder
- Cerebro Oculo Facio Skeletal (COFS) Syndrome
- Cerebrotendinous Xanthomatosis
- Charlevoix-Saguenay Spastic Ataxia (New)
- Child Lymphoblastic Lymphoma
- Child Lymphoma
- Child Neuroblastoma – with distant metastases or recurrent
- Chondrosarcoma – with multimodal therapy
- Choroid Plexus Carcinoma (New)
- Chronic Idiopathic Intestinal Pseudo Obstruction
- Chronic Myelogenous Leukemia (CML) – Blast Phase
- CIC-rearranged Sarcoma (New)
- Coffin-Lowry Syndrome
- Congenital Lymphedema
- Congenital Myotonic Dystrophy
- Congenital Zika Syndrome (New)
- Cornelia de Lange Syndrome – Classic Form
- Corticobasal Degeneration
- Creutzfeldt-Jakob Disease (CJD) – Adult
- Cri du Chat Syndrome
- Degos Disease – Systemic
- DeSanctis Cacchione Syndrome
- Desmoplastic Mesothelioma (New)
- Desmoplastic Small Round Cell Tumors
- Dravet Syndrome
- Duchenne Muscular Dystrophy- Adult (New)
- Early-Onset Alzheimer’s Disease
- Edwards Syndrome (Trisomy 18)
- Eisenmenger Syndrome
- Endometrial Stromal Sarcoma
- Endomyocardial Fibrosis
- Ependymoblastoma (Child Brain Cancer)
- Erdheim Chester Disease
- Esophageal Cancer
- Esthesioneuroblastoma
- Ewing Sarcoma
- Farber Disease (FD) – Infantile
- Fatal Familial Insomnia
- Fibrodysplasia Ossificans Progressiva
- Fibrolamellar Cancer
- Follicular Dendritic Cell Sarcoma – metastatic or recurrent
- Friedreichs Ataxia (FRDA)
- Frontotemporal Dementia (FTD), Picks Disease -Type A – Adult
- Fryns Syndrome
- Fucosidosis – Type 1
- Fukuyama Congenital Muscular Dystrophy
- Fulminant Giant Cell Myocarditis
- Galactosialidosis – Early and Late Infantile Types
- Gallbladder Cancer
- Gaucher Disease (GD) – Type 2
- Giant Axonal Neuropathy
- Glioblastoma Multiforme (Brain Cancer)
- Glioma Grade III and IV
- Glutaric Acidemia – Type II
- GM1 Gangliosidosis – Infantile and Juvenile Forms
- Head and Neck Cancers – with distant metastasis or inoperable or unresectable
- Heart Transplant Graft Failure
- Heart Transplant Wait List – 1A/1B
- Hemophagocytic Lymphohistiocytosis (HLH) – Familial Type
- Hepatoblastoma
- Hepatopulmonary Syndrome
- Hepatorenal Syndrome
- Histiocytosis Syndromes
- Hoyeaal-Hreidarsson Syndrome
- Hutchinson-Gilford Progeria Syndrome
- Hydranencephaly
- Hypocomplementemic Urticarial Vasculitis Syndrome
- Hypophosphatasia Perinatal (Lethal) and Infantile Onset Types
- Hypoplastic Left Heart Syndrome
- I Cell Disease
- Idiopathic Pulmonary Fibrosis
- Infantile Free Sialic Acid Storage Disease
- Infantile Neuroaxonal Dystrophy (INAD)
- Infantile Neuronal Ceroid Lipofuscinoses
- Inflammatory Breast Cancer (IBC)
- Intracranial Hemangiopericytoma
- Jervell and Lange-Nielsen Syndrome
- Joubert Syndrome
- Junctional Epidermolysis Bullosa – Lethal Type
- Juvenile Onset Huntington Disease
- Kidney Cancer – inoperable or unresectable
- Kleefstra Syndrome
- Krabbe Disease (KD) – Infantile
- Kufs Disease – Type A and B
- Large Intestine Cancer – with distant metastasis or inoperable, unresectable or recurrent>
- Late Infantile Neuronal Ceroid Lipofuscinoses
- Leigh’s Disease
- Leiomyosarcoma
- Leptomeningeal Carcinomatosis
- Lesch-Nyhan Syndrome (LNS)
- Lewy Body Dementia
- Liposarcoma – metastatic or recurrent
- Lissencephaly
- Liver Cancer
- Lowe Syndrome
- Lymphomatoid Granulomatosis – Grade III
- Malignant Brain Stem Gliomas – Childhood
- Malignant Ectomesenchymoma
- Malignant Gastrointestinal Stromal Tumor
- Malignant Germ Cell Tumor
- Malignant Multiple Sclerosis
- Malignant Renal Rhabdoid Tumor
- Mantle Cell Lymphoma (MCL)
- Maple Syrup Urine Disease
- Marshall-Smith Syndrome
- Mastocytosis – Type IV
- MECP2 Duplication Syndrome
- Medulloblastoma – with metastases
- Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
- Megalencephaly Capillary Malformation Syndrome
- Menkes Disease – Classic or Infantile Onset Form
- Merkel Cell Carcinoma – with metastases
- Merosin Deficient Congenital Muscular Dystrophy
- Metachromatic Leukodystrophy (MLD) – Late Infantile
- Mitral Valve Atresia
- Mixed Dementias
- MPS I, formerly known as Hurler Syndrome
- MPS II, formerly known as Hunter Syndrome
- MPS III, formerly known as Sanfilippo Syndrome
- Mucosal Malignant Melanoma
- Multicentric Castleman Disease
- Multiple System Atrophy
- Myoclonic Epilepsy with Ragged Red Fibers Syndrome
- Neonatal Adrenoleukodystrophy
- Nephrogenic Systemic Fibrosis
- Neurodegeneration with Brain Iron Accumulation – Types 1 and 2
- NFU-1 Mitochondrial Disease
- Nicolaides-Baraister Syndrome
- Niemann-Pick Disease (NPD) – Type A
- Niemann-Pick Disease-Type C
- Nonketotic Hyperglycinemia
- Non-Small Cell Lung Cancer
- Obliterative Bronchiolitis
- Ohtahara Syndrome
- Oligodendroglioma Brain Cancer- Grade III
- Ornithine Transcarbamylase (OTC) Deficiency
- Orthochromatic Leukodystrophy with Pigmented Glia
- Osteogenesis Imperfecta (OI) – Type II
- Osteosarcoma, formerly known as Bone Cancer – with distant metastases or inoperable or unresectable
- Ovarian Cancer – with distant metastases or inoperable or unresectable
- Pallister-Killian Syndrome
- Pancreatic Cancer
- Paraneoplastic Pemphigus
- Patau Syndrome (Trisomy 13)
- Pearson Syndrome
- Pelizaeus-Merzbacher Disease-Classic Form
- Pelizaeus-Merzbacher Disease-Connatal Form
- Pericardial Mesothelioma (New)
- Peripheral Nerve Cancer – metastatic or recurrent
- Peritoneal Mesothelioma
- Peritoneal Mucinous Carcinomatosis
- Perry Syndrome
- Phelan-McDermid Syndrome
- Pitt Hopkins Syndrome
- Pleural Mesothelioma
- Pompe Disease – Infantile
- Primary Central Nervous System Lymphoma
- Primary Effusion Lymphoma
- Primary Peritoneal Cancer
- Primary Progressive Aphasia
- Progressive Bulbar Palsy
- Progressive Multifocal Leukoencephalopathy
- Progressive Supranuclear Palsy
- Prostate Cancer – Hormone Refractory Disease – or with visceral metastases
- Pulmonary Atresia
- Pulmonary Kaposi Sarcoma
- Refractory Hodgkin Lymphoma (New)
- Renpenning Syndrome (New)
- Retinopathy of Prematurity – Stage V
- Rett (RTT) Syndrome
- Revesz Syndrome
- Rhabdomyosarcoma
- Rhizomelic Chondrodysplasia Punctata
- Richter Syndrome
- Roberts Syndrome
- Rubinstein-Taybi Syndrome
- Salivary Cancers
- Sandhoff Disease
- Schindler Disease – Type 1
- SCN8A Related Epilepsy with Encephalopathy (New)
- Seckel Syndrome
- Secondary Adenocarcinoma of the Brain
- Severe Combined Immunodeficiency – Childhood
- Single Ventricle
- Sinonasal Cancer
- Sjogren-Larsson Syndrome
- Skin Malignant Melanoma with Metastases
- Small Cell Cancer (Large Intestine, Prostate or Thymus)
- Small Cell Cancer of the Female Genital Tract
- Small Cell Lung Cancer
- Small Intestine Cancer – with distant metastases or inoperable, unresectable or recurrent
- Smith Lemli Opitz Syndrome
- Soft Tissue Sarcoma – with distant metastases or recurrent
- Spinal Muscular Atrophy (SMA) – Types 0 and 1
- Spinal Nerve Root Cancer-metastatic or recurrent
- Spinocerebellar Ataxia
- Stiff Person Syndrome
- Stomach Cancer – with distant metastases or inoperable, unresectable or recurrent
- Subacute Sclerosing Panencephalitis
- Superficial Siderosis of the Central Nervous System
- SYNGAP1-related NSID (New)
- Tabes Dorsalis
- Tay Sachs Disease – Infantile Type
- Taybi-Linder Syndrome (New)
- Tetrasomy 18p
- Thanatophoric Dysplasia – Type 1
- Thyroid Cancer
- Transplant Coronary Artery Vasculopathy
- Tricuspid Atresia
- Ullrich Congenital Muscular Dystrophy
- Ureter Cancer – with distant metastases or inoperable, unresectable or recurrent
- Usher Syndrome – Type I
- Ventricular Assist Device Recipient – Left, Right, or Biventricular
- Walker Warburg Syndrome
- Wolf-Hirschhorn Syndrome
- Wolman Disease
- X-Lined Lymphoproliferative Disease
- X-Linked Myotubular Myopathy
- Xeroderma Pigmentosum
- Zellweger Syndrome