Clinical and research tests for C0268337 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Aortic diseases Panel Health in Code Spain	71	35	C Sequence analysis of the entire coding region
Aortic Valvular Diseases Panel Health in Code Spain	60	30	C Sequence analysis of the entire coding region
Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics United States	99	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Low Bone Mass Panel (MitomeNGS) Baylor Genetics United States	39	22	C Sequence analysis of the entire coding region
COL3A1 Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis
COL3A1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	T Targeted variant analysis
COL3A1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Progeria Syndrome NGS Panel Fulgent Genetics United States	42	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ACMG Secondary Findings (Medically Actionable Genes, Including Cardio and Cancer) NGS Panel Fulgent Genetics United States	177	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos Syndrome with Hypermobility , Sequencing TNXB Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Marfan syndrome, EDS and other connective tissue disorders - different panels Institute of Human Genetics Cologne University Germany	10	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos Syndrome Hypermobility Type , Deletions-Duplications (MLPA) TNXB gene Reference Laboratory Genetics Spain	1	1	D Deletion/duplication analysis
Marfan syndrome and related disorders GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain	10	11	C Sequence analysis of the entire coding region
EHLERS-DANLOS, SYNDROME GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain	11	11	C Sequence analysis of the entire coding region
Ehlers-Danlos type III, Syndrome: TNXB gene deletions-duplications analysis (MLPA) GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain	1	1	D Deletion/duplication analysis
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	15	22	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
NGS panel - Ehlers-Danlos syndromes and related disorders Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	14	22	D Deletion/duplication analysis T Targeted variant analysis
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	13	23	D Deletion/duplication analysis T Targeted variant analysis
Ehlers-Danlos syndrome, type III Bioarray Spain	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.