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Results: 1 to 18 of 18 (representing 13 labs)

Tests names and labsConditionsGenes and analytesMethods

Postaxial acrofacial dysostosis - Sanger / Del Dup Comprehensive

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

Postaxial acrofacial dysostosis (POADS) - Deletion/Duplication

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

Postaxial acrofacial dysostosis

Centogene AG - the Rare Disease Company
Germany
11
  • L Linkage 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

Facial Dysostosis Related Disorders Sequencing Panel

PreventionGenetics
United States
3319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Treacher Collins Syndrome/ Mandibulofacial Dysostosis/Miller Syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel

PreventionGenetics
United States
66
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Miller Syndrome via the DHODH Gene

PreventionGenetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniofacial Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
4043
  • C Sequence analysis of the entire coding region

Craniofacial Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
4043
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniofacial Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
4043
  • D Deletion/duplication analysis

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

Miller syndrome (sequence analysis of DHODH gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

DHODH

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
601504
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Miller syndrome

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Miller syndrome

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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