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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	244	149	C Sequence analysis of the entire coding region
Comprehensive Congenital Heart Disease Panel PreventionGenetics United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Myeloid Malignancy Panel Genetic Services Laboratory University of Chicago United States	37	85	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diamond-Blackfan Anemia Panel Genetic Services Laboratory University of Chicago United States	15	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inherited Bone Marrow Failure Panel Genetic Services Laboratory University of Chicago United States	30	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RPS19 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
RPS19 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
RPS19 Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region
RPS19 Deletion/Duplication Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	D Deletion/duplication analysis
RPS19 Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis
RPS19 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Purine Panel - Urine Baylor Genetics United States	7	8	A Analyte
Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	50	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Blackfan-Diamond Anemia Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	C Sequence analysis of the entire coding region
RPS15 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
RPS27A 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
RPL9 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
Blackfan-Diamond anemia (WES based NGS panel of 21 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	20	21	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.