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Results: 1 to 20 of 77

Tests names and labsConditionsGenes and analytesMethods

Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
3433
  • D Deletion/duplication analysis

Meckel Gruber Syndrome Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
1615
  • D Deletion/duplication analysis

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
3433
  • 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

Congenital Limb Malformation Sequencing Panel with CNV Detection

PreventionGenetics
United States
6569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

Joubert syndrome and related disorders Comprehensive panel

Connective Tissue Gene Tests
United States
3931
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Joubert syndrome and related disorders NGS panel

Connective Tissue Gene Tests
United States
3931
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Joubert syndrome and related disorders Deletion / Duplication panel

Connective Tissue Gene Tests
United States
3931
  • 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
United States
3219
  • C Sequence analysis of the entire coding region

CEP290 Sequence Analysis

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

CEP290 Deletion/Duplication Analysis

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

CEP290 Sequence Analysis (Prenatal Diagnosis)

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

Results: 1 to 20 of 77

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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