Clinical and research tests for C1835813 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GGCX - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency) (GGCX 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
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pseudoxanthoma elasticum NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Pseudoxanthoma elasticum Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pseudoxanthoma elasticum Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GGCX mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	2	1	C Sequence analysis of the entire coding region
Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States	99	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bleeding Disorders Panel PreventionGenetics, part of Exact Sciences United States	78	79	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Coagulation Factor Deficiency Panel PreventionGenetics, part of Exact Sciences United States	21	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Clotting factor deficiency panel. 16-gene NGS panel. Genologica Medica Spain	29	16	C Sequence analysis of the entire coding region
Elastic pseudoxanthoma. Panel NGS genes: ABCC6, GGCX, XYLT1, XYLT2. Genologica Medica Spain	7	4	C Sequence analysis of the entire coding region
Bleeding disorder / coagulopathy panel. NGS panel of 62 genes. Genologica Medica Spain	96	62	C Sequence analysis of the entire coding region
Comprehensive Bleeding Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	80	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GGCX Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel Fulgent Genetics United States	146	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Coagulation Disorders Asper Biogene Asper Biogene LLC Estonia	21	16	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.