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Results: 1 to 20 of 139 (representing 51 labs)

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

CHARGE syndrome - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CHARGE syndrome - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Kallmann syndrome

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

CHARGE syndrome

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

Facial Dysostosis Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1417
  • C Sequence analysis of the entire coding region

CHD7 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
42
  • C Sequence analysis of the entire coding region

CHD7 deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis

CHD7 sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

Disorders of Sex Development Sequencing Panel

PreventionGenetics
United States
6469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Disorders of Sex Development and Infertility Sequencing Panel

PreventionGenetics
United States
8696
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Male Infertility Sequencing Panel

PreventionGenetics
United States
7380
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Female Infertility Sequencing Panel

PreventionGenetics
United States
7683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital heart diseases Panel

Health in Code S.L.
Spain
176
  • C Sequence analysis of the entire coding region

Cardiovascular Diseases_General Panel

Health in Code S.L.
Spain
1380
  • C Sequence analysis of the entire coding region

Kallmann Syndrome Sequencing Panel

PreventionGenetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CHARGE Syndrome (CHD7) Sequencing, Fetal

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 139

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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