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Results: 1 to 20 of 63

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

CentoNeuro Panel

Centogene US, LLC - The Rare Disease Company
United States
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene US, LLC - The Rare Disease Company
United States
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TCOF1 - 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

TCOF1 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Invitae Facial Dysostosis and Frontonasal Dysplasia Panel

Invitae
United States
4428
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

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

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

Treacher Collins syndrome and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Treacher Collins syndrome and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Treacher Collins syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Treacher Collins syndrome 1, 154500, Autosomal dominant; TCS1 (Treacher-Collins syndrome) (Prenatal) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Treacher Collins syndrome 1, 154500, Autosomal dominant; TCS1 (Treacher-Collins syndrome) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Treacher Collins syndrome 1, 154500, Autosomal dominant; TCS1 (Treacher-Collins syndrome) (TCOF1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 63

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.