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Results: 1 to 20 of 73

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • 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 1

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

Bardet-Biedl syndrome type 13

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

Bardet Biedl panel

Centogene AG - the Rare Disease Company
Germany
118
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KidneySeq: A Comprehensive Inherited Kidney Disease Panel

Iowa Institute of Human Genetics University of Iowa
United States
122147
  • C Sequence analysis of the entire coding region

Monogenic Obesity Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1332
  • C Sequence analysis of the entire coding region

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

MKS1. Detection of the mutation c.1487-7_-35del (p.Gly470fs) by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

MKS1. Complete sequencing

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

MitoMet®Plus aCGH Analysis

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

Bardet Biedl Syndrome

Asper Biotech Asper Biotech Ltd.
Estonia
2122
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Meckel-Gruber Syndrome via the MKS1 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ciliopathy NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
7374
  • 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

Bardet-Biedl Syndrome Sequencing Panel

PreventionGenetics
United States
2020
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Renal Cystic Disorders Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1263
  • C Sequence analysis of the entire coding region

Meckel syndrome

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1010
  • C Sequence analysis of the entire coding region

Bardet-Biedl syndrome

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1918
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 73

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.