Clinical and research tests for C3279664 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Congenital Neutropenia GenePanel Mayo Clinic Laboratories Mayo Clinic United States	46	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EBV/Lymphoproliferation GenePanel Mayo Clinic Laboratories Mayo Clinic United States	35	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GATA2 Gene, Full Gene Analysis Mayo Clinic Laboratories Mayo Clinic United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive HemeComplete Profile + Heme Fusion + CALR PCR + FLT3 PCR PathGroup United States	16	160	T Targeted variant analysis
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	156	107	D Deletion/duplication analysis 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
Myeloid Tumor Panel Centogene AG - the Rare Disease Company Germany	74	34	C Sequence analysis of the entire coding region
GATA2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Multi-Cancer + RNA Panel Invitae United States	143	63	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Surfactant Metabolism Panel Invitae United States	40	19	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
Comprehensive Myeloid Profile + CALR PCR + FLT3 PCR PathGroup United States	16	65	T Targeted variant analysis
Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neonatal Respiratory Distress Panel Invitae United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
Mendelian Susceptibility to Mycobacterial Disease Panel PreventionGenetics, part of Exact Sciences United States	29	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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

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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.

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Results: 1 to 20 of 83

Results: 1 to 20 of 83