Clinical and research tests for structure OR formation OR architecture OR conformation OR constitution OR makeup - Genetic Testing Registry (GTR)

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Select all conditions on this page	Conditions	Synonyms
Select item 447509	Wilms tumor 1	Wilms tumor, somatic
Select item 576337	Aniridia 1
Select item 64512	11p partial monosomy syndrome	11p deletion syndrome CHROMOSOME 11p13 DELETION SYNDROME Chromosome 11p deletion syndrome WAGR Complex WAGR syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
Select item 482320	Accelerated tumor formation, susceptibility to
Select item 21498	Tetralogy of Fallot	Fallot tetralogy
Select item 231165	Twinning, monozygotic
Select item 120614	Deficiency of galactokinase	GALACTOSEMIA II Galactokinase Deficiency Galactokinase deficiency with cataracts Galactosemia 2 Hereditary galactokinase deficiency
Select item 413414	Glioma susceptibility 1	Glioblastoma, somatic
Select item 61440	Pelizaeus-Merzbacher disease	LEUKODYSTROPHY, HYPOMYELINATING, 1 Pelizaeus Merzbacher brain sclerosis Pelizeaus-Merzbacher spectrum disorder Sudanophilic leukodystrophy
Select item 330449	Desmin-related myofibrillar myopathy	DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY Desmin related myopathy (former name) Desmin storage myopathy (former name) Desminopathy Limb-Girdle Muscular Dystrophy Type 1D MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY Myofibrillar myopathy 1
Select item 450467	Mercaptopurine response	6-Mercaptopurine response Purinethol response
Select item 895748	Osteofibrous dysplasia	Tibia, bowing of, with pseudarthrosis and pectus excavatum
Select item 450431	Azathioprine response	Azasan response Imuran response
Select item 336165	Granulomatous disease, chronic, X-linked	CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, SOMATIC MOSAIC
Select item 450489	Thioguanine response	6-Thioguanine response Tabloid response
Select item 344415	Microcephaly 1, primary, autosomal recessive	PCC SYNDROME PREMATURE CHROMOSOME CONDENSATION SYNDROME Premature chromosome condensation with microcephaly and mental retardation
Select item 1162	Crouzon syndrome	CRANIOFACIAL DYSOSTOSIS, TYPE I Craniofacial dysostosis Craniofacial dysostosis type 1 Crouzon craniofacial dysostosis Crouzon disease
Select item 8226	Cystinuria	CYSTINURIA, TYPE I CYSTINURIA, TYPE II CYSTINURIA, TYPE III Cystinuria, non-type I
Select item 350343	Pseudohypoparathyroidism type 1B	PHP IB Pseudohypoparathyroidism Ib (PHP-Ib) Pseudohypoparathyroidism Type IB
Select item 348473	Leber congenital amaurosis 2	AMAUROSIS CONGENITA OF LEBER II Amaurosis congenita of Leber, type 2 RPE65-Related Leber Congenital Amaurosis

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.