Clinical and research tests for 139212 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 38 of 38

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Primary ciliary dyskinesia panel. 36-gene NGS panel. Genologica Medica Spain	46	35	C Sequence analysis of the entire coding region
Heterotaxy and situs inversus panel. 32-gene NGS panel. Genologica Medica Spain	34	31	C Sequence analysis of the entire coding region
Heterotaxy & Situs Inversus Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	7	36	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
PIH1D3 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
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Ciliary Dyskinesia NGS Panel Fulgent Genetics United States	55	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PIH1D3 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Heterotaxy and Situs Inversus Panel Blueprint Genetics Finland	2	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Ciliary Dyskinesia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	38	38	C Sequence analysis of the entire coding region
Comprehensive Pulmonary-Vascular Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	100	86	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Ciliary Dyskinesia Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	42	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Pulmonology Panel Blueprint Genetics Finland	5	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Ciliary Dyskinesia Panel Blueprint Genetics Finland	3	36	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Heterotaxy Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	156	114	C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 38 of 38

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.