Clinical and research tests for 2677 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Whole Pharmacogenomics Scan RPRD Diagnostics, LLC United States	107	69	D Deletion/duplication analysis T Targeted variant analysis
GGCX Gene Vitamin K-dependent clotting factors combined deficiency type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
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 Labcorp Genetics (formerly Invitae) LabCorp 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
Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450, Autosomal recessive; VKCFD1 (Hereditary combined deficiency of vitamin K-dependent clotting factors) (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
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	171	137	C Sequence analysis of the entire coding region
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 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
Connective Tissue Disorders Panel Baylor Genetics United States	1	92	C Sequence analysis of the entire coding region
Haematological diseases panel _v.2.0 CGC Genetics Unilabs Portugal	1	344	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.