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Results: 1 to 20 of 53

Tests names and labsConditionsGenes, analytes, and microbesMethods

Primary Ciliary Dyskinesia Panel

Mayo Clinic Laboratories Mayo Clinic
United States
439
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DRC1 - NGS including CNV analysis

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

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Primary Ciliary Dyskinesia Panel, Sequencing

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
132
  • C Sequence analysis of the entire coding region

Invitae Neonatal Respiratory Distress Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
163111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliary dyskinesia, primary, 21, 615294, Autosomal recessive; CILD21 (Primary ciliary dyskinesia) (DRC1 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

PulmZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
171137
  • C Sequence analysis of the entire coding region

Primary Ciliary Dyskinesia (PCD) via the DRC1 Gene

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

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
4450
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Primary Ciliary Dyskinesia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4937
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathy Panel

PreventionGenetics, part of Exact Sciences
United States
135133
  • 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 Panel

PreventionGenetics, part of Exact Sciences
United States
4451
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Immunodeficiency Panel

Baylor Genetics
United States
1463
  • C Sequence analysis of the entire coding region

Primary ciliary dyskinesia (WES-based NGS panel of 34 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
134
  • C Sequence analysis of the entire coding region

Congenital Heart Defects Panel 

CGC Genetics Unilabs
Portugal
1208
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 53

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.