Clinical and research tests for J Capdevila - Genetic Testing Registry (GTR)

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Select all conditions on this page	Conditions	Synonyms
Select item 41523	Type 2 diabetes mellitus	DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST Diabetes mellitus, noninsulin-dependent, late onset KCNJ11-Related Susceptibility to Noninsulin-Dependent Diabetes Mellitus Type II diabetes mellitus
Select item 82890	Pendred syndrome	DEAFNESS WITH GOITER Goiter-deafness syndrome HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B Pendred's syndrome THYROID DYSHORMONOGENESIS 2B THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B
Select item 761234	Autosomal recessive nonsyndromic hearing loss 4	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC Deafness, autosomal recessive 4 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct Enlarged vestibular aqueduct, digenic FOXI1-Related Pendred Syndrome KCNJ10-Related Pendred Syndrome NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 Nonsyndromic enlarged vestibular aqueduct (NSEVA)
Select item 327586	Andersen Tawil syndrome	Andersen Syndrome Andersen cardiodysrhythmic periodic paralysis Long QT syndrome 7 Periodic paralysis, potassium-sensitive cardiodysrhythmic type Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
Select item 323015	Fanconi anemia complementation group J	BRIP1-Related Fanconi Anemia
Select item 419173	Hyperinsulinemic hypoglycemia, familial, 2	HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT HYPERINSULINISM, NEONATAL KCNJ11-Related Hyperinsulinism
Select item 462083	Long QT syndrome 13
Select item 343428	Bartter disease type 2	Bartter syndrome, type 2, antenatal HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL Hyperprostaglandin E syndrome 2
Select item 462781	Atrial fibrillation, familial, 9	KCNJ2-Related Familial Atrial Fibrillation
Select item 371484	Permanent neonatal diabetes mellitus	ABCC8-Related Permanent Neonatal Diabetes Mellitus INS-Related Permanent Neonatal Diabetes Mellitus KCNJ11-Related Permanent Neonatal Diabetes Mellitus PDX1-Related Permanent Neonatal Diabetes Mellitus Permanent diabetes mellitus of infancy
Select item 481692	Leber congenital amaurosis 16	KCNJ13-Related Leber Congenital Amaurosis
Select item 400662	Short QT syndrome type 3
Select item 411243	EAST syndrome	Epilepsy, ataxia, sensorineural deafness and tubulopathy SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ELECTROLYTE IMBALANCE SeSAME syndrome Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
Select item 351177	Diabetes mellitus, transient neonatal, 3	Diabetes Mellitus, KCNJ11-Related Transient Neonatal
Select item 824604	Familial hyperaldosteronism type III	FH III Familial hyperaldosteronism type 3
Select item 897640	Maturity-onset diabetes of the young type 13	MODY, TYPE 13
Select item 395476	Snowflake vitreoretinal degeneration	Snowflake degeneration in hereditary vitreoretinal degeneration
Select item 1713823	Diabetes mellitus, permanent neonatal 2
Select item 324818	Glaucoma 1, open angle, J	GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 2 GLC1J
Select item 83310	Paroxysmal familial ventricular fibrillation	Idiopathic Ventricular Fibrillation Idiopathic ventricular fibrillation, non Brugada type Paroxysmal ventricular fibrillation

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