Clinical and research tests for K Dragnev - Genetic Testing Registry (GTR)

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Select all conditions on this page	Gene symbol	Associated conditionsHelp Conditions and phenotypes associated with each gene as reported by OMIM, GeneReviews and Gene
Select item 5244	ABCB4 Tests	Cholestasis, intrahepatic, of pregnancy, 3 Low phospholipid associated cholelithiasis Progressive familial intrahepatic cholestasis type 3
Select item 10058	ABCB6 Tests	Dyschromatosis universalis hereditaria 3 Familial pseudohyperkalemia Langereis blood group Microphthalmia, isolated, with coloboma 7
Select item 6718	AKR1D1 Tests	Congenital bile acid synthesis defect 2
Select item 153642	ARSK Tests	Mucopolysaccharidosis, type 10
Select item 476	ATP1A1 Tests	Charcot-marie-tooth disease, axonal, type 2DD Hypomagnesemia, seizures, and intellectual disability 2
Select item 570	BAAT Tests	Bile acid conjugation defect 1
Select item 673	BRAF Tests	Cardiofaciocutaneous syndrome 1 Cetuximab response Colorectal cancer Dabrafenib response LEOPARD syndrome 3 Lung cancer Melanoma, cutaneous malignant, susceptibility to, 1 Noonan syndrome 1 Noonan syndrome 7 Panitumumab response Vemurafenib response
Select item 1029	CDKN2A Tests	Melanoma and neural system tumor syndrome Melanoma, cutaneous malignant, susceptibility to, 2 Melanoma-pancreatic cancer syndrome
Select item 1956	EGFR Tests	Cetuximab response Inflammatory skin and bowel disease, neonatal, 2 Lung cancer Panitumumab response
Select item 2064	ERBB2 Tests	Cetuximab response Gastric cancer Glioma susceptibility 1 Lung cancer Ovarian neoplasm Panitumumab response Pertuzumab response Trastuzumab response Visceral neuropathy, familial, 2, autosomal recessive
Select item 2677	GGCX Tests	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Vitamin K-dependent clotting factors, combined deficiency of, type 1
Select item 57061	HYMAI Test	Diabetes mellitus, transient neonatal, 1
Select item 338567	KCNK18 Tests	Migraine, with or without aura, susceptibility to, 13
Select item 3777	KCNK3 Tests	Pulmonary hypertension, primary, 4
Select item 51305	KCNK9 Tests	Birk-Barel syndrome
Select item 3792	KEL Tests	Kell blood group system
Select item 3845	KRAS Tests	Acute myeloid leukemia Autoimmune lymphoproliferative syndrome type 4 Carcinoma of pancreas Cardiofaciocutaneous syndrome 2 Cerebral arteriovenous malformation Cetuximab response Familial cancer of breast Gastric cancer Linear nevus sebaceous syndrome Lung cancer Malignant tumor of urinary bladder Noonan syndrome 3 Panitumumab response Toriello-Lacassie-Droste syndrome
Select item 3861	KRT14 Tests	Dermatopathia pigmentosa reticularis Epidermolysis bullosa simplex 1A, generalized severe Epidermolysis bullosa simplex 1C, localized Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive Epidermolysis bullosa simplex, Koebner type Naegeli-Franceschetti-Jadassohn syndrome
Select item 4018	LPA Tests	LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS
Select item 4547	MTTP Tests	Abetalipoproteinaemia

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