Clinical and research tests for 139212 - 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
Infertility Panel Centogene AG - the Rare Disease Company Germany	243	238	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Pulmonary Panel Centogene AG - the Rare Disease Company Germany	99	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	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
Invitae Neonatal Respiratory Distress Panel Labcorp Genetics (formerly Invitae) LabCorp United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Heterotaxy, Situs Inversus and Kartagener's Syndrome Panel PreventionGenetics, part of Exact Sciences United States	43	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ciliary dyskinesia, primary, 36, X-linked, 300991, X-linked recessive; CILD36 (Primary ciliary dyskinesia) (PIH1D3 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
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	171	137	C Sequence analysis of the entire coding region
Primary Ciliary Dyskinesia (PCD) via the DNAAF6/PIH1D3 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
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
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 Immunodeficiency Panel Baylor Genetics United States	1	463	C Sequence analysis of the entire coding region
Primary ciliary dyskinesia (WES-based NGS panel of 34 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	34	C Sequence analysis of the entire coding region
Lung Disorders Panel CGC Genetics Unilabs Portugal	1	107	C Sequence analysis of the entire coding region
Ciliopathies panel_v.2.0 CGC Genetics Unilabs Portugal	1	184	C Sequence analysis of the entire coding region
Immunodeficiencies and Immunologic Diseases Panel (Complete) Mendelics Brazil	1	397	C Sequence analysis of the entire coding region
Primary Ciliary Dyskinesia Panel Mendelics Brazil	1	35	C Sequence analysis of the entire coding region
Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain	115	66	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.