Clinical and research tests for C1864041 - 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
CCM2 - 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
Blood Coagulation Panel Centogene AG - the Rare Disease Company Germany	110	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	345	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Cerebral cavernous malformations Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral cavernous malformations Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral cavernous malformations NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral cavernous malformations-2, 603284, Autosomal dominant (Familial cerebral cavernous malformation) (CCM2 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
Vascular malformations Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Vascular malformations NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Vascular malformations Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral cavernous malformations NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral cavernous malformations Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral cavernous malformations Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary hemorrhagic telangiectasia (HHT) Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	8	9	D Deletion/duplication analysis
Cerebral Cavernous Malformations Panel PreventionGenetics, part of Exact Sciences United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral Cavernous Malformations via the CCM2 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

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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.