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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NeXT Dx Personalis, Inc. United States	1	413	I Microsatellite instability testing (MSI) R RNA analysis C Sequence analysis of the entire coding region
Onco microarray for MDS/AML Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	2	69	D Deletion/duplication analysis H Detection of homozygosity
Hematologic Cancer Fusion Analysis Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	1	147	R RNA analysis
Hematological Malignancy Fusion Panel Laboratory for Molecular Pediatric Pathology Boston Children's Hospital United States	8	71	R RNA analysis
FusionPlex Pan-Heme Panel Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington United States	6	49	R RNA analysis
Severe Congenital Neutropenia Panel PreventionGenetics, part of Exact Sciences United States	40	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Lymphoid/Immunodeficiency Predisposition Panel Genetic Services Laboratory University of Chicago United States	27	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Immunodeficiency Panel Baylor Genetics United States	1	463	C Sequence analysis of the entire coding region
Comprehensive Hematologic Cancer Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	215	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Comprehensive Solid Tumor Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	315	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Hereditary neutropenia (WES based NGS panel of 35 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	35	C Sequence analysis of the entire coding region
Haematological diseases panel _v.2.0 CGC Genetics Unilabs Portugal	1	344	C Sequence analysis of the entire coding region
Bone Marrow Failure Syndrome Panel CGC Genetics Unilabs Portugal	1	175	C Sequence analysis of the entire coding region
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
CONGENITAL NEUTROPENIA SYNDROME PANEL Laboratorio de Genetica Clinica SL Spain	1	38	E Sequence analysis of select exons
MI Tumor Seek Hybrid Caris Life Sciences United States	1	591	R RNA analysis C Sequence analysis of the entire coding region
Paired Tumor/Normal - Comprehensive Hematologic Cancer Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	215	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
AML NGS panel Duzen Laboratories Duzen BBAGUAS Turkey	1	84	T Targeted variant analysis
MKL1 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
Paired Tumor/Normal - Comprehensive Solid Tumor Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	315	D Deletion/duplication analysis R RNA analysis 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.