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Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

Polydactyly and Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300, Autosomal dominant (Hereditary hypercarotenemia and vitamin A deficiency) (BCO1 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

Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300, Autosomal dominant (Hereditary hypercarotenemia and vitamin A deficiency) (BCO1 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

Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • 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

Hypercarotenemia and vitamin A deficiency (BCO1)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • C Sequence analysis of the entire coding region

BCO1 Single Gene

Fulgent Genetics
United States
11
  • 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 8 of 8

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