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GTR test search results for C1846790[DISCUI]

C Clinical test, R Research test

Showing 1 to 20 of 36 tests for 1 condition in 14 labs

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

CJoubert/Meckel-Gruber syndrome Panel

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

CComprehensive Epilepsy Panel

Lab: Transgenomic New Haven, Connecticut, United States
Total conditions (527)
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 (73)
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)

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 (620)
Total targets (421)

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

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)

CJoubert syndrome

Lab: Invitae San Francisco, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (12)
Total targets (15)

CNPHP1. Complete sequencing

Lab: Instituto de Medicina Genomica Paterna, Comunidad Valenciana, Spain
Test targets
Methods
  • C Sequence analysis of the entire coding region

CTMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, CEP41, TMEM237. NextGeneDx.Complete sequencing by NGS

Lab: Instituto de Medicina Genomica Paterna, Comunidad Valenciana, Spain
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (11)
Total targets (11)

CNeonatal and Adult Cholestasis: Sequencing Panel

Lab: Emory Genetics Laboratory Emory University Decatur, Georgia, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (100)
Total targets (58)

CNeurology: Sequencing Panel

Lab: Emory Genetics Laboratory Emory University Decatur, Georgia, United States
Total conditions (257)
Total targets (165)

CBrain Malformations: Sequencing Panel

Lab: Emory Genetics Laboratory Emory University Decatur, Georgia, United States
Total conditions (93)
Total targets (50)

CCiliopathies: Sequencing and Deletion/Duplication Panel

Lab: Emory Genetics Laboratory Emory University Decatur, Georgia, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (165)
Total targets (112)

CSenior-Loken Syndrome: Sequencing and Deletion/Duplication Panel

Lab: Emory Genetics Laboratory Emory University Decatur, Georgia, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (15)
Total targets (7)

CJoubert Syndrome: Sequencing Panel

Lab: Emory Genetics Laboratory Emory University Decatur, Georgia, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (36)
Total targets (18)

Showing 1 to 20 of 36 tests for 1 condition in 14 labs

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