Clinical and research tests for 601574 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Parkinson Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	94	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FTD and ALS Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	51	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Motor Neuron Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	2	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TAF15 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis (ALS) / Dementia Panel Centogene AG - the Rare Disease Company Germany	64	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Solid Tumor Fusion Analysis Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	1	115	R RNA analysis
FusionPlex Solid Tumor Panel Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington United States	3	114	R RNA analysis
Chondrosarcoma, extraskeletal myxoid, 612237 (Extraskeletal myxoid chondrosarcoma) (TAF15 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
Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis) Variantyx, Inc. United States	14	118	D Deletion/duplication analysis X Mutation scanning of select exons 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
AMYOTROPHIC LATERAL SCLEROSIS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	57	E Sequence analysis of select exons
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	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
Chondrosarcoma: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	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
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Sarcoma Comprehensive NGS Fusion Panel NeoGenomics Laboratories NeoGenomics Laboratories, Inc. United States	1	97	C Sequence analysis of the entire coding region
Non-Ewing Sarcoma NGS Fusion Profile NeoGenomics Laboratories NeoGenomics Laboratories, Inc. United States	4	24	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.