Clinical and research tests for C1260899 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 51

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Inherited Red Blood Cell Disorder Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	17	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure NGS Panel Fulgent Genetics United States	180	60	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
Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States	416	235	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BLACKFAN-DIAMOND ANEMIA Laboratorio de Genetica Clinica SL Spain	11	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diamond-Blackfan Anemia Panel Blueprint Genetics Finland	1	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hematology Panel Blueprint Genetics Finland	4	239	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Anemia Panel Blueprint Genetics Finland	2	78	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	9	43	C Sequence analysis of the entire coding region
RPL26 Single Gene Fulgent Genetics United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IQCG Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NDUFA7 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RPL35A - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	E Sequence analysis of select exons T Targeted variant analysis
RPL11 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	E Sequence analysis of select exons T Targeted variant analysis
RPS17 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	E Sequence analysis of select exons T Targeted variant analysis
RPS7 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	E Sequence analysis of select exons T Targeted variant analysis
RPS24 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	E Sequence analysis of select exons T Targeted variant analysis
RPS19 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	E Sequence analysis of select exons T Targeted variant analysis
RPL5 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	E Sequence analysis of select exons T Targeted variant analysis
RPS10 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	E Sequence analysis of select exons T Targeted variant analysis

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Results: 21 to 40 of 51

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.