Clinical and research tests for 254450 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Myelofibrosis, somatic, 254450 (Myelofibrosis with myeloid metaplasia) (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
Myelofibrosis, somatic, 254450 (Myelofibrosis with myeloid metaplasia) V617F Mutation and (Exon 12-14) (JAK2 gene) (Dizi Analizi) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	E Sequence analysis of select exons
Myelofibrosis with myeloid metaplasia, somatic, 254450 (Myelofibrosis with myeloid metaplasia) (MPL 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
Myelofibrosis, somatic, 254450 (Myelofibrosis with myeloid metaplasia) (CALR 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
JAK2 Targeted Mutation Analysis (V617F) Genetics Center United States	3	1	T Targeted variant analysis
Comprehensive HemeComplete Profile + Heme Fusion + CALR PCR + FLT3 PCR PathGroup United States	16	160	T Targeted variant analysis
UCSF Molecular Diagnostics Laboratory UCSF Molecular Diagnostics Laboratory University of California, San Francisco United States	4	52	C Sequence analysis of the entire coding region
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
CALR - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MPL - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cancer Hotspot Panel Genome-Nilou Lab Iran	45	34	E Sequence analysis of select exons
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	70	50	D Deletion/duplication analysis
Invitae Familial Essential Thrombocythemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	9	3	D Deletion/duplication analysis
Myeloid NextGen Sequencing Assay with Calreticulin Exon 9 Mutation PathGroup United States	16	65	T Targeted variant analysis
Myeloid NextGen Sequencing Assay PathGroup United States	16	65	T Targeted variant analysis
Myeloid NextGen Sequencing Assay with FLT3 ITD and TKD Analysis PathGroup United States	16	65	T Targeted variant analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Myeloid Profile + CALR PCR + FLT3 PCR PathGroup United States	16	65	T Targeted variant 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

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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.