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Results: 21 to 40 of 115

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400, Autosomal recessive; CILD1 (Primary ciliary dyskinesia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400, Autosomal recessive; CILD1 (Primary ciliary dyskinesia) (DNAI1 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PulmZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
163128
  • C Sequence analysis of the entire coding region

Hydrocephalus Panel

Genetic Services Laboratory University of Chicago
United States
316
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Invitae
United States
4937
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Ciliary Dyskinesia (PCD) via the DNAI1 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

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 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

Cardiovascular Comprehensive Panel 

CGC Genetics Unilabs
Portugal
1353
  • 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

Lung Disorders Panel 

CGC Genetics Unilabs
Portugal
1107
  • C Sequence analysis of the entire coding region

Ciliopathies Panel 

CGC Genetics Unilabs
Portugal
1178
  • C Sequence analysis of the entire coding region

Ciliary dyskinesia, primary 1 (deletion/duplication analysis of DNAI1 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Ciliary dyskinesia, primary 1 (sequence analysis of DNAI1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Immunodeficiencies and Immunologic Diseases Panel (Complete)

Mendelics
Brazil
1397
  • C Sequence analysis of the entire coding region

Primary Ciliary Dyskinesia Panel

Mendelics
Brazil
135
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 115

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.