Clinical and research tests for C4225311 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RSPH3 - 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
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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Neonatal Respiratory Distress Panel Invitae United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ciliary dyskinesia, primary, 32, 616481, Autosomal recessive; CILD32 (Primary ciliary dyskinesia) (RSPH3 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 Hospital United States	163	128	C Sequence analysis of the entire coding region
Primary Ciliary Dyskinesia (PCD) via the RSPH3 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
Invitae Primary Ciliary Dyskinesia Panel Invitae United States	49	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain	115	66	C Sequence analysis of the entire coding region
Primary ciliary dyskinesia panel. 36-gene NGS panel. Genologica Medica Spain	46	35	C Sequence analysis of the entire coding region
RSPH3 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
Ciliopathies Asper Biogene Asper Biogene LLC Estonia	166	120	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
Primary Ciliary Dyskinesia Asper Biogene Asper Biogene LLC Estonia	33	35	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

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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.