Clinical and research tests for C0008780 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Primary Ciliary Dyskinesia Panel Mayo Clinic Laboratories Mayo Clinic United States	4	39	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Ciliary Dyskinesia Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	1	32	C Sequence analysis of the entire coding region
PGmax™ - Comprehensive Congenital Heart Disease Panel PreventionGenetics, part of Exact Sciences United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Custom Panel (Pulmonology) PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	162	129	C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Panel PreventionGenetics, part of Exact Sciences United States	44	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Primary Ciliary Dyskinesia (PCD) via the RPGR Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ciliopathy Panel PreventionGenetics, part of Exact Sciences United States	135	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Panel PreventionGenetics, part of Exact Sciences United States	44	51	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Primary ciliary dyskinesia (p.Lys268del mutation on RSPH9 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Primary Ciliary Dyskinesia Panel Mendelics Brazil	1	35	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
Primary Ciliary Dyskinesia (PCD) Mutation Testing Molecular Genetics University of North Carolina Hospitals United States	1	38	C Sequence analysis of the entire coding region
Comprehensive lung panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	64	66	C Sequence analysis of the entire coding region
Primary Ciliary Dyskinesia panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	36	38	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
Congenital Heart Defect NGS Panel Fulgent Genetics United States	377	114	D Deletion/duplication 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.