Clinical and research tests for C0268342 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 73

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TAADNext® Ambry Genetics United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FBN1 gene sequence and deletion/duplication reflex to TAADNext® Ambry Genetics United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cardio® Ambry Genetics United States	236	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome NGS panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	8	12	C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome Comprehensive panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	8	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	8	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Ehlers-Danlos Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp United States	38	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Aortopathy Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	60	29	D Deletion/duplication analysis 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
PLOD1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
PLOD1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
PLOD1 Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region
Ehlers-Danlos Syndrome, Kyphoscoliotic Form via the PLOD1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Marfan syndrome panel. 30-gene NGS panel. Genologica Medica Spain	71	30	C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome panel. 32-gene NGS panel. Genologica Medica Spain	85	32	C Sequence analysis of the entire coding region
Aortic disease panel. 41-gene NGS panel. Genologica Medica Spain	94	41	C Sequence analysis of the entire coding region
PLOD1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis

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Results: 21 to 40 of 73

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.