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Results: 1 to 20 of 139

Tests names and labsConditionsGenes, analytes, and microbesMethods

Facial Dysostosis Panel

Genetic Services Laboratory University of Chicago
United States
1418
  • D Deletion/duplication analysis
  • 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

Congenital Heart Disease Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2244
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6163
  • C Sequence analysis of the entire coding region

CHD7 Gene Sequencing

Michigan Medical Genetics Laboratories University of Michigan
United States
11
  • C Sequence analysis of the entire coding region

CHARGE syndrome testing (CHD7)

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

CHD7 - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene US, LLC - The Rare Disease Company
United States
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoHear Panel

Centogene US, LLC - The Rare Disease Company
United States
203194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoImmuno Panel

Centogene US, LLC - The Rare Disease Company
United States
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SEMA3E - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CHD7 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SEMA3E - NGS including CNV analysis

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

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoHear Panel

Centogene AG - the Rare Disease Company
Germany
203194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
288218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

VACTERL Association and Related Disorders Panel

PreventionGenetics
United States
12384
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Disorders of Sex Development Panel

Invitae
United States
8853
  • D Deletion/duplication analysis
  • 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.