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Results: 1 to 18 of 18

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

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

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 18 of 18

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.