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Results: 1 to 20 of 74

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Meckel Gruber Syndrome Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1615
  • C Sequence analysis of the entire coding region

Joubert/Meckel-Gruber syndrome Panel

Genetic Services Laboratory University of Chicago
United States
3329
  • C Sequence analysis of the entire coding region

Meckel syndrome type 4

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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

CEP290. Detection of the mutation c.1219_1220del (p.Met407fs) by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

CEP290. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Leber Congential Amaurosis Panel (MitomeNGS)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
3219
  • C Sequence analysis of the entire coding region

CEP290 Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
51
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CEP290 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CEP290 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
51
  • D Deletion/duplication analysis

CEP290 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
51
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

Joubert and Meckel-Gruber Syndromes via the CEP290 Gene

PreventionGenetics
United States
21
  • 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

Joubert and Meckel-Gruber Syndromes Sequencing Panel

PreventionGenetics
United States
3228
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Joubert syndrome, Bardet-Biedl, Senior Loken, LCA - CEP290 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
51
  • C Sequence analysis of the entire coding region

Brain Malformations: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
9250
  • C Sequence analysis of the entire coding region

Bardet-Biedl Syndrome: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
1218
  • D Deletion/duplication analysis

Results: 1 to 20 of 74

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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