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Results: 1 to 20 of 57 (representing 15 labs)

Tests names and labsConditionsGenes and analytesMethods

Comprehensive pulmonary disease panel

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

Primary ciliary dyskinesia

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary ciliary dyskinesia type 1

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Bronchiectasis Panel (17 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
1717
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel

PreventionGenetics
United States
2831
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Ciliary Dyskinesia (PCD) via the DNAH8 Gene

PreventionGenetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

DNAH5. Sequencing of the exons 34, 50, 63, 76 and 77

Instituto de Medicina Genomica
Spain
31
  • E Sequence analysis of select exons

DNAH5. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

DNAH11. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

DNAI1. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

RSPH9. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

DNAI1. Sequencing of the exons 1, 13, 16, 17 and 18

Instituto de Medicina Genomica
Spain
31
  • E Sequence analysis of select exons

DNAH5. Sequencing of the exons 13, 17, 26-28, 32-33, 36, 41, 48, 49, 53, 62 and 67

Instituto de Medicina Genomica
Spain
31
  • E Sequence analysis of select exons

Primary Ciliary Dyskinesia (PCD) via the DNAI1 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ciliopathy Sequencing Panel

PreventionGenetics
United States
9293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel

PreventionGenetics
United States
2832
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel

PreventionGenetics
United States
2931
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RSPH3

Fulgent Genetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RSPH1

Fulgent Genetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 57

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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