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Results: 1 to 20 of 34 (representing 13 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 type 15

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
3339
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Ciliary Dyskinesia (PCD) via the CCDC40 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
3340
  • 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
3336
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ciliopathy Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
219152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
5964
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Ciliary Dyskinesia Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
3137
  • D Deletion/duplication analysis

Comprehensive Pulmonary-Vascular Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
5964
  • D Deletion/duplication analysis

Comprehensive Pulmonary-Vascular Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
6065
  • C Sequence analysis of the entire coding region

Primary Ciliary Dyskinesia Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
3237
  • C Sequence analysis of the entire coding region

Primary Ciliary Dyskinesia Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
3137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Ciliary Dyskinesia with CFTR Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3734
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Ciliary Dyskinesia Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3333
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PRIMARY CILIARY DYSKINESIA

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1717
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Defects and Heterotaxy Panel

Invitae
United States
12882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 34

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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