Clinical and research tests for V Prado - Genetic Testing Registry (GTR)

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Select all conditions on this page	Conditions	Synonyms
Select item 396074	Thrombophilia due to activated protein C resistance	APC resistance Activated protein C resistance Factor V Cambridge Thrombophilia Hereditary Resistance to Activated Protein C PCCF DEFICIENCY PROC COFACTOR DEFICIENCY THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR THROMBOPHILIA V
Select item 87542	Familial cancer of breast	Breast cancer, familial Hereditary breast cancer
Select item 5341	Glycogen storage disease, type V	GSD 5 Glycogen storage disease type 5 McArdle disease McArdle type glycogen storage disease Muscle glycogen phosphorylase deficiency Myophosphorylase deficiency
Select item 463623	Thrombophilia due to thrombin defect	Factor V R2 Mutation Thrombophilia Prothrombin-Related Thrombophilia Prothrombin-Related Thrombophilia (Factor II) THROMBOPHILIA DUE TO FACTOR 2 DEFECT Thrombosis susceptibility
Select item 9730	Acute myeloid leukemia	AML adult Acute granulocytic leukemia Acute myelogenous leukemia Acute myeloid leukemia, adult Acute non-lymphocytic leukemia Familial Acute Myelocytic Leukemia Leukemia, acute myelogenous, somatic Leukemia, acute myeloid, somatic
Select item 320506	Melanoma, cutaneous malignant, susceptibility to, 1	B-K MOLE SYNDROME Cutaneous malignant melanoma 1 DYSPLASTIC NEVUS SYNDROME, HEREDITARY FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME MELANOMA, MALIGNANT
Select item 83428	Colorectal cancer	Colorectal cancer, somatic Malignant Colorectal Neoplasm
Select item 413414	Glioma susceptibility 1	Glioblastoma, somatic
Select item 347542	3-methylglutaconic aciduria type 5	3 alpha methylglutaconic aciduria type V 3-methylglutaconic aciduria type V CARDIOMYOPATHY, DILATED, WITH ATAXIA MGA 5 MGA, TYPE V
Select item 108454	Costello syndrome	FCS syndrome Faciocutaneoskeletal syndrome
Select item 852267	Cardiofaciocutaneous syndrome 1	BRAF-Related Cardiofaciocutaneous Syndrome Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
Select item 182973	Leber optic atrophy	Leber hereditary optic neuropathy Leber's disease Leber's optic atrophy Optic Atrophy, Hereditary, Leber
Select item 44264	Gastric cancer	Malignant tumor of stomach Stomach cancer
Select item 1638960	Noonan syndrome 1	Female pseudo-Turner syndrome PTPN11-Related Noonan Syndrome Turner Syndrome, Male Turner phenotype with normal karyotype
Select item 419332	Osteogenesis imperfecta type 5	OI type 5 OSTEOGENESIS IMPERFECTA, TYPE V Type V OI
Select item 6453	Mucopolysaccharidosis, MPS-I-S	MPS V MUCOPOLYSACCHARIDOSIS TYPE IS MUCOPOLYSACCHARIDOSIS TYPE V Scheie Syndrome
Select item 14150	Malignant tumor of urinary bladder	Bladder cancer Urinary Bladder Neoplasms Urinary bladder cancer
Select item 67390	Pfeiffer syndrome	ACS V Acrocephalosyndactyly, type 5 FGFR1-Related Craniosynostosis Pfeiffer type acrocephalosyndactyly
Select item 78660	Ehlers-Danlos syndrome, classic type, 1	EDS I EHLERS-DANLOS SYNDROME, GRAVIS TYPE EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE Ehlers-Danlos syndrome, classic type I Ehlers-Danlos syndrome, type 1
Select item 1646402	Brugada syndrome 1	Right bundle branch block, ST segment elevation, and sudden death syndrome SCN5A-Related Brugada Syndrome

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