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Results: 1 to 9 of 9

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Au-Kline syndrome, 616580, Autosomal dominant; AUKS (Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome) (HNRNPK 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

Au-Kline syndrome, 616580, Autosomal dominant; AUKS (Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome) (HNRNPK 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

Kabuki syndrome Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
35
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kabuki syndrome Comprehensive test

HNL Genomics Connective Tissue Gene Tests
United States
35
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Kabuki syndrome NGS test

HNL Genomics Connective Tissue Gene Tests
United States
35
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Kabuki Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Au-Kline syndrome: Full gene sequencing

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

180K CGH+SNP microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
2311
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Results: 1 to 9 of 9

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