Clinical and research tests for C2931246 - Genetic Testing Registry (GTR)

Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
qChip 1M Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 60k post-natal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 400 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Microdeletion / Microduplication Syndromes Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile	28	39	D Deletion/duplication analysis
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
qChip 60k prenatal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Chromosomal microarray Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	235	1	M FISH-metaphase K Karyotyping D Deletion/duplication analysis H Detection of homozygosity U Uniparental disomy study (UPD)
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Invitae Multi-Cancer + RNA Panel Invitae United States	143	63	D Deletion/duplication analysis
Potocki-Lupski syndrome, 610883, Isolated cases (17p11.2 microduplication syndrome) (Prenatal) (440) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Potocki-Lupski syndrome, 610883, Isolated cases (17p11.2 microduplication syndrome) (440) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Potocki-Lupski syndrome Genetics Service Unit National Institute of Biomedical Genomics India	1	1	D Deletion/duplication analysis
Constitutional Chromosomal Microarray Analysis Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington United States	26	1	D Deletion/duplication analysis
Smith-Magenis and Potocki-Lupski syndromes via the RAI1 Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
180K CGH+SNP microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	231	1	D Deletion/duplication analysis H Detection of homozygosity
Potocki-Lupski Syndrome MVZ Dr. Eberhard & Partner Dortmund Germany	1	1	D Deletion/duplication analysis
Gene dosage and expression analysis Elsea Laboratory Baylor College of Medicine United States	11	13	A Analyte X Protein expression R RNA analysis

Results: 1 to 19 of 19

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.

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Results: 1 to 19 of 19

Results: 1 to 19 of 19