Clinical and research tests for n dodecyltrimethoxysilane - Genetic Testing Registry (GTR)

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Select all conditions on this page	Conditions	Synonyms
Select item 43375	Mucopolysaccharidosis, MPS-IV-A	Galactosamine-6-sulfatase deficiency MPS 4A MPS IVA Morquio A disease Morquio syndrome A Morquio syndrome A, mild Mucopolysaccharidosis Type IVA Mucopolysaccharidosis type IV A
Select item 1642611	Tumoral calcinosis, hyperphosphatemic, familial, 1	CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA Cortical hyperostosis with hyperphosphatemia FGF23-Related Familial Hyperphosphatemic Tumoral Calcinosis Hyperostosis with hyperphosphatemia Hyperostosis-hyperphosphatemia syndrome LIPOCALCINOGRANULOMATOSIS MORBUS TEUTSCHLAENDER TEUTSCHLAENDER DISEASE, FAMILIAL TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC
Select item 372133	Fanconi anemia complementation group N	PALB2-Related Fanconi Anemia
Select item 324734	Colorectal cancer, susceptibility to, 1	COLORECTAL ADENOMA AND CANCER, SUSCEPTIBILITY TO COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 9 Colorectal cancer 1
Select item 461767	Autosomal recessive limb-girdle muscular dystrophy type 2O	Limb-Girdle Muscular Dystrophy Type 2O Limb-Girdle Muscular Dystrophy Type 3C Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
Select item 461762	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3
Select item 481405	Multiple congenital anomalies-hypotonia-seizures syndrome 1	Congenital disorder of glycosylation due to PIGN deficiency GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 PIGN-CDG
Select item 462869	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
Select item 98312	Anaphylotoxin inactivator deficiency	Carboxypeptidase N deficiency Deficiency of carboxypeptidase B
Select item 815372	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
Select item 934671	Retinitis pigmentosa 76
Select item 370756	Glaucoma 1, open angle, N	GLC1N
Select item 10071	BLOOD GROUP, MN
Select item 1780260	Bile acid conjugation defect 1
Select item 424834	N syndrome	Mental retardation, malformations, chromosome breakage, and development of T-cell leukemia
Select item 906792	CCDC115-CDG	CDG IIo CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
Select item 1646767	BLOOD GROUP, Ss
Select item 895025	TMEM199-CDG	CDG IIp CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
Select item 83018	Stage IV Non-Small Cell Lung Cancer	Metastatic Non-Small Cell Lung Cancer
Select item 1824068	Congenital disorder of glycosylation, type IIz	CDG IIz

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