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Results: 1 to 20 of 42

Tests names and labsConditionsGenes, analytes, and microbesMethods

Distal Arthrogryposis Panel

Genetic Services Laboratory University of Chicago
United States
1211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Aortopathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
5448
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan and Related Conditions Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3730
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

FBN2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication analysis

Early-Onset High Myopia Panel

PreventionGenetics, part of Exact Sciences
United States
285137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Marfan Syndrome and Related Aortopathies Panel

PreventionGenetics, part of Exact Sciences
United States
4038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fibrillinopathy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fibrillinopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
166101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital contractural arachnodactyly Deletion / Duplication Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital contractural arachnodactyly Comprehensive Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TAADNext®

Ambry Genetics
United States
5035
  • 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
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fibrillinopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fibrillinopathy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sudden Cardiac Arrest Panel

PreventionGenetics, part of Exact Sciences
United States
6349
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
223198
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Aortopathy Comprehensive Panel

Invitae
United States
6029
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 42

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.