Clinical and research tests for C1848534 - 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
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
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
GGCX mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	2	1	C Sequence analysis of the entire coding region
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
Coagulation Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	25	20	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Vitamin K-dependent clotting factors, combined deficiency of: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
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
Pulmonary Arterial Hypertension Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	26	20	C Sequence analysis of the entire coding region
GGCX MVZ Dr. Eberhard & Partner Dortmund Germany	2	1	C Sequence analysis of the entire coding region
VKORC1 genotyping Molecular Diagnostics Laboratory Seoul National University Hospital South Korea	1	1	T Targeted variant analysis
GGCX mutational analysis Connective Tissue Laboratory Ghent University Hospital Belgium	6	1	E Sequence analysis of select exons
ABCC6 mutational analysis Connective Tissue Laboratory Ghent University Hospital Belgium	6	1	E Sequence analysis of select exons
ENPP1 mutational analysis Connective Tissue Laboratory Ghent University Hospital Belgium	6	1	E Sequence analysis of select exons
Pseudoxanthoma Elasticum (PXE) gene panel Connective Tissue Laboratory Ghent University Hospital Belgium	6	3	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.