Clinical and research tests for EGLN1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Tempus xT Tempus AI - RTP United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
EGLN1 Gene Erythrocytosis, familial type 3 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Tempus xT Tempus AI - CHI United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia BloodGenetics Spain	12	11	C Sequence analysis of the entire coding region
Comprehensive cancer panel (76 genes) Molecular Genetics Laboratory North York General Hospital Canada	1	74	T Targeted variant analysis
HemeZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	107	96	C Sequence analysis of the entire coding region
Invitae Familial Erythrocytosis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	9	5	D Deletion/duplication analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	249	155	C Sequence analysis of the entire coding region
GTC-Solid Tumor Profile Plus Fusion/Expression (DNA and RNA) Genomic Testing Cooperative, LCA United States	1	434	R RNA analysis C Sequence analysis of the entire coding region
GTC-Solid Tumor Profile Genomic Testing Cooperative, LCA United States	1	434	C Sequence analysis of the entire coding region
GTC-Hematology Profile Plus Fusion/Expression (DNA and RNA) Genomic Testing Cooperative, LCA United States	1	254	R RNA analysis C Sequence analysis of the entire coding region
GTC-Hematology Profile Genomic Testing Cooperative, LCA United States	1	247	C Sequence analysis of the entire coding region
Erythrocytosis, familial, 3, 609820, Autosomal dominant; ECYT3 (Autosomal dominant secondary polycythemia) (EGLN1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®) Ambry Genetics United States	90	90	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CancerNext-Expanded® (+RNAinsight®) Ambry Genetics United States	88	90	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
CustomNext-Cancer® Ambry Genetics United States	94	90	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CancerNext-Expanded® Ambry Genetics United States	86	89	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Cancer Targeted Variant Analysis Molecular Genetics Laboratory North York General Hospital Canada	1	74	T Targeted variant analysis
Hereditary Pheochromocytoma and Paraganglioma Panel Genetic Services Laboratory University of Chicago United States	10	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS panel Pheocromocytoma/Paraganglioma Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), Unidad de Investigacion Traslacional (UIT) Hospital de Niños Dr. Ricardo Gutiérrez Argentina	1	30	C Sequence analysis of the entire coding region

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