Clinical and research tests for S Stenger - Genetic Testing Registry (GTR)

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Select all conditions on this page	Conditions	Synonyms
Select item 287	Hb SS disease Tests Gene GeneReviews	HbS disease Hemoglobin S Disease Hemoglobin SS Sickle cell anemia Sickle cell disease Sickling disorder due to hemoglobin S
Select item 462009	Breast-ovarian cancer, familial, susceptibility to, 3 Tests Gene GeneReviews	Breast-ovarian cancer, familial 3 RAD51C-Related Breast/Ovarian Cancer RAD51C-Related Familial Susceptibility to Breast-Ovarian Cancer
Select item 481975	Breast-ovarian cancer, familial, susceptibility to, 4 Tests Gene GeneReviews	Breast-ovarian cancer, familial 4 RAD51D-Related Familial Susceptibility to Breast-Ovarian Cancer
Select item 452211	Sickle cell-beta-thalassemia Tests Genes GeneReviews	Hb S beta-thalassemia Hemoglobin S Beta-Thalassemia Hemoglobin sickle-beta thalassemia Sickle beta thalassemia
Select item 1633554	Lynch syndrome Tests Genes GeneReviews
Select item 479841	Thrombophilia due to protein S deficiency, autosomal dominant Tests Gene GeneReviews
Select item 940569	Mitochondrial complex I deficiency, nuclear type 1 Tests Gene GeneReviews	MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF NADH-COENZYME Q REDUCTASE DEFICIENCY
Select item 6222	Marinesco-Sjögren syndrome Tests Gene GeneReviews	Marinesco-Garland Syndrome Marinesco-Sjogren Syndrome Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy Marinesco-Sjogren-Garland Syndrome Marinesco-SjÃ¶gren syndrome
Select item 325005	Lynch syndrome 4 Tests Gene GeneReviews	Colorectal cancer, hereditary nonpolyposis, type 4 Hereditary non-polyposis colorectal cancer, type 4
Select item 462003	Fanconi anemia complementation group O Tests Gene GeneReviews	RAD51C-Related Fanconi Anemia
Select item 370808	Charcot-Marie-Tooth disease type 4J Tests Gene GeneReviews	CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4J Charcot-Marie-Tooth Neuropathy Type 4J Charcot-Marie-Tooth Neuropathy Type 4J (CMT4J)
Select item 266296	Congenital dyserythropoietic anemia, type II Tests Gene GeneReviews	CDA 2 Dyserythropoietic anemia, congenital type 2 HEMPAS anemia Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test'
Select item 325055	Retinitis pigmentosa 11 Tests Gene GeneReviews	RP 11
Select item 393399	Amyotrophic lateral sclerosis type 11 Tests Gene GeneReviews	FIG4-Related Amyotrophic Lateral Sclerosis
Select item 384027	Pontocerebellar hypoplasia type 4 Tests Gene GeneReviews	Encephalopathy fatal infantile with olivopontocerebellar hypoplasia TSEN54-Related Pontocerebellar Hypoplasia
Select item 1632414	Fanconi anemia, complementation group S Tests Gene GeneReviews
Select item 339941	Spinocerebellar ataxia type 28 Tests Gene GeneReviews
Select item 376379	Pontocerebellar hypoplasia type 2A Tests Gene GeneReviews	PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY VOLENDAM NEURODEGENERATIVE DISEASE
Select item 766288	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Tests Gene GeneReviews	COQ9-Related Coenzyme Q10 Deficiency Coenzyme Q10 deficiency, primary, 5
Select item 325486	Retinitis pigmentosa 13 Tests Gene GeneReviews	PRPF 8-Related Retinitis Pigmentosa RP 13

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