Clinical and research tests for C4310796 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 58

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Marfan lipodystrophy syndrome, 616914, Autosomal dominant; MFLS (Progeroid and marfanoid aspect-lipodystrophy syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Generalized, Partial and Atypical Lipodystrophy Panel PreventionGenetics, part of Exact Sciences United States	57	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CraniofacialZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	45	C Sequence analysis of the entire coding region
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Invitae United States	208	81	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Invitae United States	220	75	D Deletion/duplication analysis 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
Comprehensive Cataracts Panel PreventionGenetics, part of Exact Sciences United States	157	171	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Progeroid syndromes and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	21	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progeroid syndromes and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	21	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Progeroid syndromes and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	21	21	C Sequence analysis of the entire coding region T Targeted variant analysis
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
Congenital Generalized Lipodystrophy (CGL) Panel PreventionGenetics, part of Exact Sciences United States	33	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Loeys-Dietz Syndrome Panel Invitae United States	17	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Aortopathy Comprehensive Panel Invitae 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
Lipodystrophy Panel Genetic Services Laboratory University of Chicago United States	17	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 58

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.