Clinical and research tests for 3-Mercapto-n-nonylpropionamide - Genetic Testing Registry (GTR)

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Results: 1 to 16 of 16

Select all conditions on this page	Conditions	Synonyms
Select item 481405	Multiple congenital anomalies-hypotonia-seizures syndrome 1 Tests Gene GeneReviews	Congenital disorder of glycosylation due to PIGN deficiency GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 PIGN-CDG
Select item 461767	Autosomal recessive limb-girdle muscular dystrophy type 2O Tests Gene GeneReviews	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 Tests Gene GeneReviews	MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3
Select item 462869	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Tests Gene GeneReviews	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 10071	BLOOD GROUP, MN Tests Gene GeneReviews
Select item 1646767	BLOOD GROUP, Ss Tests Gene GeneReviews
Select item 6452	Sanfilippo syndrome Tests Genes GeneReviews	Mucopoly-saccharidosis type 3 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type III Sanfilippo disease
Select item 373113	Alpha-N-acetylgalactosaminidase deficiency type 1 Tests Gene GeneReviews	ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I NAGA DEFICIENCY, TYPE I NAGA deficiency, type 1 Neuroaxonal dystrophy, Schindler type SCHINDLER DISEASE, TYPE I Schindler Disease Schindler disease, type 1
Select item 324539	Alpha-N-acetylgalactosaminidase deficiency type 2 Tests Gene GeneReviews	ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II Alpha-N-acetylgalactosaminidase deficiency adult onset Kanzaki disease NAGA DEFICIENCY, TYPE II NAGA deficiency type 2 SCHINDLER DISEASE, TYPE II Schindler disease type 2
Select item 1772900	Alpha-N-acetylgalactosaminidase deficiency type 3 Tests Genes GeneReviews	ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III SCHINDLER DISEASE, TYPE III Schindler disease, type 3
Select item 88602	Mucopolysaccharidosis, MPS-III-D Tests Gene GeneReviews	MPS 3D MPS III D MUCOPOLYSACCHARIDOSIS, TYPE IIID Mucopoly-saccharidosis type 3D N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY N-acetylglucosamine-6-sulfate sulfatase deficiency Sanfilippo syndrome D
Select item 39477	Mucopolysaccharidosis, MPS-III-C Tests Gene GeneReviews	Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency MPS 3C MPS III C MUCOPOLYSACCHARIDOSIS, TYPE IIIC Mucopoly-saccharidosis type 3C Mucopolysaccharidosis type IIIC (Sanfilippo C) Sanfilippo syndrome C
Select item 88601	Mucopolysaccharidosis, MPS-III-B Tests Gene GeneReviews	MPS 3B MPS III B MUCOPOLYSACCHARIDOSIS, TYPE IIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type IIIB (Sanfilippo B) N-acetyl-alpha-d-glucosaminidase deficiency NAGLU DEFICIENCY Sanfilippo syndrome B
Select item 39264	Mucopolysaccharidosis, MPS-III-A Tests Gene GeneReviews	Heparan sulfate sulfatase deficiency MPS 3A MPS III A MUCOPOLYSACCHARIDOSIS, TYPE IIIA, ATTENUATED Mucopoly-saccharidosis type 3A Mucopolysaccharidosis type IIIA (Sanfilippo A) SULFAMIDASE DEFICIENCY Sanfilippo syndrome A
Select item 51342	Polymerase proofreading-related adenomatous polyposis Tests Genes GeneReviews
Select item 324393	Aminoacylase 1 deficiency Tests Gene GeneReviews	ACY1 deficiency Deficiency of the aminoacylase-1 enzyme Neurological conditions associated with aminoacylase 1 deficiency

Results: 1 to 16 of 16

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