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Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoDysmorph Panel

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

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, Part of Exact Sciences
United States
297180
  • 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

Burn-McKeown syndrome, 608572, Autosomal recessive; BMKS (Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome) (TXNL4A gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Burn-McKeown syndrome, 608572, Autosomal recessive; BMKS (Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome) (TXNL4A gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Treacher Collins syndrome and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
99
  • 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
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Treacher Collins syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
99
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Treacher Collins Syndrome and Mandibulofacial Dysostosis Gene Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
1310
  • C Sequence analysis of the entire coding region

Treacher-Collins syndrome panel

Genologica Medica
Spain
66
  • C Sequence analysis of the entire coding region

Treacher-Collins syndrome panel. 7-gene NGS panel.

Genologica Medica
Spain
66
  • C Sequence analysis of the entire coding region

Burn-McKeown Syndrome (TXNL4A Single Gene Test)

Fulgent Genetics
United States
301
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Burn-McKeown Syndrome: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

TXNL4A Single Gene

Fulgent Genetics
United States
301
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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.