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GTR test search results for 4867[geneid]

C Clinical test, R Research test

Showing 1 to 20 of 73 tests for 2502 conditions in 25 labs

CNephronophthisis panel

Lab: Centogene AG - the Rare Disease Company Rostock, Mecklenburg-Vorpommern, Germany
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total targets (13)

CJoubert syndrome type 4

Lab: Centogene AG - the Rare Disease Company Rostock, Mecklenburg-Vorpommern, Germany
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CNephronophthisis type 1

Lab: Centogene AG - the Rare Disease Company Rostock, Mecklenburg-Vorpommern, Germany
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CJoubert/Meckel-Gruber syndrome Panel

Lab: Genetic Services Laboratory University of Chicago Chicago, Illinois, United States
Total conditions (27)
Total targets (25)

CNephronophthisis Sequencing Panel

Lab: Genetic Services Laboratory University of Chicago Chicago, Illinois, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total targets (13)

CTruGenome Predisposition Screen (Whole Genome Sequencing)

Lab: Illumina Clinical Services Laboratory Illumina San Diego, California, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (1541)
Total targets (1578)

CComprehensive Epilepsy Panel

Lab: Transgenomic New Haven, Connecticut, United States
Total conditions (529)
Total targets (377)

CNephronophthisis and Joubert Syndrome via the NPHP1 Gene

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CCiliopathy NextGen Sequencing Panel

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (74)
Total targets (74)

CNephronophthisis Sanger Sequencing Panel

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (12)
Total targets (10)

CNephronophthisis and Senior-Loken Syndrome NextGen Sequencing Panel

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (17)
Total targets (16)

CJoubert and Meckel-Gruber Syndromes NextGen Sequencing Panel

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (31)
Total targets (25)

CepiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders (489 genes)

Lab: Courtagen Diagnostics Laboratory Courtagen Life Sciences Woburn, Massachusetts, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (621)
Total targets (421)

CNephronophthisis 1, juvenile

Lab: Institute of Human Genetics Cologne University Cologne, Nordrhein-Westfalen, Germany
Test targets
Methods
  • S Mutation scanning of the entire coding region

CNPHP1

Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics Temple City, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CNPH1 (FJN) Molecular Analysis

Lab: Athena Diagnostics Inc Marlborough, Massachusetts, United States
Test targets
Methods
  • D Deletion/duplication analysis

CNPHP1 DNA Deletion Test

Lab: Athena Diagnostics Inc Marlborough, Massachusetts, United States
Test targets
Methods
  • D Deletion/duplication analysis

CJoubert Syndrome Evaluation

Lab: Athena Diagnostics Inc Marlborough, Massachusetts, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (6)
Total targets (6)

CCiliopathies, full panel

Lab: Invitae San Francisco, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (82)
Total targets (55)

Showing 1 to 20 of 73 tests for 2502 conditions in 25 labs

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