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Results: 1 to 20 of 168

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Marfan, Loeys-Dietz syndrome and related disorders panel

Centogene AG - the Rare Disease Company
Germany
1715
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive pulmonary disease panel

Centogene AG - the Rare Disease Company
Germany
5766
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan syndrome, type I - Sanger / Del Dup Comprehensive

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

Marfan syndrome, type I (MFS1) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Marfan syndrome, type I (MFS1) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

PulmoGene Panel (64 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
6964
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan Syndrome, Type 2 - TGFBR1 Gene

Center for Genetics at Saint Francis Saint Francis Hospital
United States
51
  • C Sequence analysis of the entire coding region

Marfan Syndrome, Type 2 - TGFBR2 Gene

Center for Genetics at Saint Francis Saint Francis Hospital
United States
51
  • C Sequence analysis of the entire coding region

Marfan Syndrome - FBN1 Gene

Center for Genetics at Saint Francis Saint Francis Hospital
United States
31
  • C Sequence analysis of the entire coding region

Marfan Syndrome, FBN1 Seq, Del/Dup

ARUP Laboratories, Molecular Genetics and Genomics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan Syndrome (FBN1) Sequencing

ARUP Laboratories, Molecular Genetics and Genomics
United States
81
  • C Sequence analysis of the entire coding region

Fibrillinopathy Comprehensive panel

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

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

Fibrillinopathy NGS panel

Connective Tissue Gene Tests
United States
33
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Marfan syndrome and Loeys-Dietz syndrome NGS panel

Connective Tissue Gene Tests
United States
66
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Marfan syndrome and Loeys-Dietz syndrome core Deletion / Duplication panel

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

Marfan syndrome, type I / II Deletion / Duplication panel

Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 168

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.

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