Clinical and research tests for C1844776 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
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
Cone-rod dystrophy, X-linked, 1, 304020, X-linked; CORDX1 (Cone rod dystrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Cone-rod dystrophy, X-linked, 1, 304020, X-linked; CORDX1 (Cone rod dystrophy) (RPGR 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
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Specialized Sequencing of the Mutational Hotspot RPGR (isoform C) ORF15 Region PreventionGenetics, part of Exact Sciences United States	4	1	C Sequence analysis of the entire coding region T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	300	C Sequence analysis of the entire coding region
Invitae Primary Ciliary Dyskinesia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	49	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
X-linked Retinitis Pigmentosa (XLRP) and Choroideremia Panel PreventionGenetics, part of Exact Sciences United States	7	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cone-Rod Dystrophy Panel PreventionGenetics, part of Exact Sciences United States	37	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
X-linked Retinitis Pigmentosa (XLRP) via the RPGR Gene PreventionGenetics, part of Exact Sciences United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
RPGR MLPA Institute for Human Genetics University Medical Center Freiburg Germany	4	1	D Deletion/duplication analysis
Macular dystrophy panel. NGS panel of 26 genes. Genologica Medica Spain	50	26	C Sequence analysis of the entire coding region
Rod and cone dystrophy panel. 42-gene NGS panel. Genologica Medica Spain	65	41	C Sequence analysis of the entire coding region
Retinitis pigmentosa panel Genologica Medica Spain	164	108	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.