Clinical and research tests for butenolide phosphate - Genetic Testing Registry (GTR)

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Select all conditions on this page	Conditions	Synonyms
Select item 907954	Congenital hyperammonemia, type I Tests Gene GeneReviews	CPS 1 deficiency CPS I DEFICIENCY Carbamoyl phosphate synthetase 1 deficiency Carbamoyl phosphate synthetase I deficiency disease Carbamoyl-phosphate synthase I deficiency Carbamyl phosphate synthetase (CPS) deficiency Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency
Select item 811528	Pulmonary hypertension, neonatal, susceptibility to Tests Gene GeneReviews
Select item 41523	Type 2 diabetes mellitus Tests Genes GeneReviews	DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST Diabetes mellitus, noninsulin-dependent, late onset KCNJ11-Related Susceptibility to Noninsulin-Dependent Diabetes Mellitus Type II diabetes mellitus
Select item 419694	DPAGT1-congenital disorder of glycosylation Tests Gene GeneReviews	CDG 1J CDG Ij CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij Congenital disorder of glycosylation type 1J DPAGT1-CDG DPAGT1-CDG (CDG-Ij)
Select item 462080	Hemolytic anemia due to glucophosphate isomerase deficiency Tests Gene GeneReviews	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
Select item 501133	Autosomal recessive hypophosphatemic bone disease Tests Gene GeneReviews	HYPERCALCIURIC RICKETS Hereditary Hypophosphatemic Rickets with Hypercalciuria Hypophosphatemic rickets with hypercalciuria
Select item 350498	Pyridoxal phosphate-responsive seizures Tests Gene GeneReviews	EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED Pyridoxal 5'-phosphate-dependent epilepsy Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Pyridoxine-5'-phosphate oxidase deficiency SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE
Select item 87455	Phosphate transport defect Tests Gene GeneReviews	GLYCOGEN STORAGE DISEASE Ic GSD Ic
Select item 69164	McCune-Albright syndrome Tests Gene GeneReviews	Albright syndrome Albright's Syndrome Albright's disease McCune-Albright syndrome, somatic, mosaic
Select item 324373	Cardiomyopathy-hypotonia-lactic acidosis syndrome Tests Gene GeneReviews	Mitochondrial phosphate carrier deficiency
Select item 374012	Rhizomelic chondrodysplasia punctata type 3 Tests Gene GeneReviews	Alkyldihydroxyacetonephosphate synthase deficiency Alkylglycerone Phosphate Synthase (AGPS) deficiency
Select item 766559	Congenital myasthenic syndrome 13 Tests Gene GeneReviews	Myasthenic syndrome, congenital, 13, with tubular aggregates Myasthenic syndrome, congenital, with tubular aggregates 2
Select item 120649	Hyperammonemia, type III Tests Gene GeneReviews	Hyperammonemia due to N-acetylglutamate synthase deficiency N-Acetylglutamate Synthase Deficiency NAG synthetase deficiency
Select item 436776	Hypophosphatemic nephrolithiasis/osteoporosis 1 Tests Gene GeneReviews
Select item 56374	PULMONARY ALVEOLAR MICROLITHIASIS Tests Gene GeneReviews
Select item 965728	Amifampridine Phosphate Response Tests Genes GeneReviews
Select item 344221	Autosomal dominant nonsyndromic hearing loss 25 Tests Gene GeneReviews	DFNA25 Nonsyndromic Hearing Loss and Deafness Deafness, autosomal dominant 25
Select item 403555	Anemia, nonspherocytic hemolytic, due to G6PD deficiency Tests Genes GeneReviews	Class I glucose-6-phosphate dehydrogenase deficiency Favism, susceptibility to Hemolytic anemia due to G6PD deficiency
Select item 462002	Fanconi renotubular syndrome 2 Tests Gene GeneReviews
Select item 934441	Hypercalcemia, infantile, 2 Tests Gene GeneReviews

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