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Results: 181 to 200 of 209

Tests names and labsConditionsGenes, analytes, and microbesMethods

Vascular and connective tissue diseases - panels

MGZ Medical Genetics Center
Germany
367
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Eye Diseases - panels

MGZ Medical Genetics Center
Germany
6167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial Aneurysm and Aortopathy

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
831
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
531
  • C Sequence analysis of the entire coding region

NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
57
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

Methylmalonic Acidemia Sequencing NextGen Panel

Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado
United States
2513
  • C Sequence analysis of the entire coding region

Cardiomyopathy Panel

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
13112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Homocystinuria, B6-responsive and nonresponsive types

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Arterial Aneurysm Panel

Collagen Diagnostic Laboratory University Of Washington
United States
1623
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
3435
  • C Sequence analysis of the entire coding region

CBS

Institute of Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

Ectopia Lentis

MGZ Medical Genetics Center
Germany
210
  • C Sequence analysis of the entire coding region

Teenager Stroke / Stroke-Like Episodes

MGZ Medical Genetics Center
Germany
221
  • C Sequence analysis of the entire coding region

Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)

MGZ Medical Genetics Center
Germany
316
  • C Sequence analysis of the entire coding region

Marfan/TAAD Sequencing Panel

GeneDx
United States
916
  • S Mutation scanning of the entire coding region

Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2629
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CBS Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cardiovascular disorders panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
2917
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Results: 181 to 200 of 209

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.