Clinical and research tests for C4551637 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia BloodGenetics Spain	12	11	C Sequence analysis of the entire coding region
HemeZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	107	96	C Sequence analysis of the entire coding region
EPOR - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Familial Essential Thrombocythemia Panel Invitae United States	9	3	D Deletion/duplication analysis
Invitae Familial Erythrocytosis Panel Invitae United States	9	5	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	345	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	267	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Erythrocytosis, somatic, 133100; ECYT1 (codon 617 mutations ve ekzon 12-14) (JAK2 gene) (Dizi Analizi) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	E Sequence analysis of select exons
Erythrocytosis, somatic, 133100 (SH2B3 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
[Erythrocytosis, familial, 1], 133100, Autosomal dominant (Primary familial polycythemia) (EPOR 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
Primary Familial and Congenital Polycythemia (PFCP) via the EPOR Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Erythrocytosis Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	7	8	C Sequence analysis of the entire coding region
Hypereosinophilic Syndrome Genetic Panel Duzen Laboratories Duzen BBAGUAS Turkey	5	6	I FISH-interphase
JAK2 Exon 12 Mutations Duzen Laboratories Duzen BBAGUAS Turkey	4	1	E Sequence analysis of select exons
JAK2 V617F Duzen Laboratories Duzen BBAGUAS Turkey	4	1	T Targeted variant analysis
JAK2 rearrangements Duzen Laboratories Duzen BBAGUAS Turkey	4	1	I FISH-interphase
EPOR gene Ekzon 8 sequence analysis Duzen Laboratories Duzen BBAGUAS Turkey	1	1	E Sequence analysis of select exons
EPOR Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis

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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.