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Results: 1 to 20 of 23

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

BGN - 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

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication 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

Meester-Loeys syndrome, 300989, X-linked; MRLS (BGN gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Meester-Loeys syndrome, 300989, X-linked; MRLS (BGN gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

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

Invitae Aortopathy Comprehensive Panel

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

Ehlers-Danlos Syndromes (EDS) Panel

PreventionGenetics, Part of Exact Sciences
United States
9965
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq: Cardio - Familial Aortopathy Panel

Integrated Genetics Westborough LabCorp
United States
1328
  • C Sequence analysis of the entire coding region

Spondylometaphyseal / spondyloepimetaphyseal dysplasia panel. 28-gene NGS panel.

Genologica Medica
Spain
6928
  • C Sequence analysis of the entire coding region

Marfan syndrome panel. 30-gene NGS panel.

Genologica Medica
Spain
7130
  • C Sequence analysis of the entire coding region

Ehlers-Danlos syndrome panel. 32-gene NGS panel.

Genologica Medica
Spain
8532
  • C Sequence analysis of the entire coding region

Aortic disease panel. 41-gene NGS panel.

Genologica Medica
Spain
9441
  • C Sequence analysis of the entire coding region

BGN Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

Results: 1 to 20 of 23

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.