Clinical and research tests for 314850 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Mayo Clinic Laboratories Mayo Clinic United States	39	40	C Sequence analysis of the entire coding region
XK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies BloodGenetics Spain	33	36	C Sequence analysis of the entire coding region
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
HemeZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	107	96	C Sequence analysis of the entire coding region
NGS Panel for Hereditary Hemolytic Anemias due to Membranopathies (spherocytosis, elliptocytosis, pyropoycylocytosis, ovalocytosis, stomatocytosis) and Gilbert syndrome as a modifier factor BloodGenetics Spain	7	17	C Sequence analysis of the entire coding region
XK - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region
McLeod syndrome with or without chronic granulomatous disease, 300842, X-linked; MCLDS (McLeod neuroacanthocytosis syndrome) (XK gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
McLeod syndrome with or without chronic granulomatous disease, 300842, X-linked; MCLDS (McLeod neuroacanthocytosis syndrome) (XK 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
Dystonia Exome Genetic Services Laboratory University of Chicago United States	93	170	C Sequence analysis of the entire coding region
McLeod Syndrome via the XK 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
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Neurodegenerative panel _v.2.0 CGC Genetics Unilabs Portugal	15	207	C Sequence analysis of the entire coding region
Epilepsy panel_v.2.0 CGC Genetics Unilabs Portugal	1	759	C Sequence analysis of the entire coding region
Dilated cardiomyopathy (WES based NGS panel of 81 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	81	C Sequence analysis of the entire coding region
Alzheimer's and other dementias panel_v.2.0 CGC Genetics Unilabs Portugal	1	20	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.