Clinical and research tests for 2657 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GDF1 Gene Transposition of great arteries, dextro-looped 3 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Congenital Heart Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	22	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital heart diseases Panel Health in Code Spain	1	76	C Sequence analysis of the entire coding region
Cardiovascular Diseases_General Panel Health in Code Spain	1	380	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Heterotaxy, Situs Inversus and Kartagener's Syndrome Panel PreventionGenetics, part of Exact Sciences United States	43	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital heart disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital heart disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital heart disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	15	C Sequence analysis of the entire coding region T Targeted variant analysis
Nonsyndromic Congenital Heart Disease Panel PreventionGenetics, part of Exact Sciences United States	54	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Right atrial isomerism, 208530, Autosomal recessive; RAI (Ivemark syndrome) (GDF1 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
Right atrial isomerism, 208530, Autosomal recessive; RAI (Ivemark syndrome) (GDF1 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
Tetralogy of Fallot, 187500, Autosomal dominant (Tetralogy of Fallot) (GDF1 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
Transposition of great arteries, dextro-looped 3, 613854, Autosomal dominant; DTGA3 (Congenitally uncorrected transposition of the great arteries) (GDF1 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
Transposition of great arteries, dextro-looped 3, 613854, Autosomal dominant; DTGA3 (Congenitally uncorrected transposition of the great arteries) (GDF1 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
Tetralogy of Fallot, 187500, Autosomal dominant (Tetralogy of Fallot) (GDF1 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

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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.