Gaucher disease with metabolic disorder

Altered Mental Status with Metabolic Disorder

Feeding Intolerance with Metabolic Disorder

Failure to thrive with metabolic disorder

Family history of adrenocortical carcinoma

Family history of thyroid cancer

Family history of Ollier disease

Family history of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria

Family history of rhabdomyosarcoma

Family history of sarcomas

Family history of testicular cancer

Family history of pancreatic cancer

Family history of parathyroid carcinoma

Family history of pleuropulmonary blastoma

Family history of kidney cancer

Family history of multi-nodular goiter

Family history of osteosarcoma

Family history of brain cancer

Family history of cystic nephroma

Family history of gonadoblastoma

Mitochondrial Encephalomyopathy

Mitochondrial Myopathy

Leigh Disease

Barth syndrome

Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)

Genetic evaluation of short stature

Genetic evaluation of achondroplasia

Genetic evaluation of a birth defect(s)

Genetic Evaluation of Vision Loss

Genetic evaluation of chromosome disorders

Genetic evaluation of osteogenesis imperfecta (OI)

Genetic evaluation of overgrowth disorders

Genetic evaluation of intellectual disability

Sotos syndrome

Fabry disease with metabolic disorder

Liver disease with metabolic disorder

Recurrent vomiting with metabolic disorder

Hypotonia with Metabolic Disorder

Family history of atypical teratoid rhabdoid tumor (ATRT)

family history of urothelial cell carcinoma

Family history of Maffucci syndrome

Family history of retinal hemangioblastoma

Family history of retinoblastoma / pineoblastoma

Family history of skin cancer

Family history of ovarian cancer

Family history of paraganglioma/pheochromocytoma

Family history of pituitary blastoma

Family history of hepatoblastoma

Family history of leukemias

Family history of myxoma

Family history of malignant rhabdoid tumors (MRT)

Family history of cardiac rhabdomyoma

Family history of gastrointestinal stromal tumor (GIST)

Mitochondrial Eye Diseases

Mitochondrial DNA mutations

Mitochondrial respiratory chain disorders

Kearns-Sayre Syndrome

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP)

Genetic Evaluation of Dwarfism

Genetic Evaluation of Autism Spectrum Disorder

Genetic evaluation of deafness

Genetic Evaluation of Hard of Hearing

Genetic evaluation of hypophosphatemia

Genetic evaluation of bone disorders/conditions

Genetic Evaluation Developmental Delays

Kabuki syndrome

Beckwith-Wiedemann Syndrome