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Results: 1 to 6 of 6

Tests names and labsConditionsGenes, analytes, and microbesMethods

SLC6A17 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mental retardation, autosomal recessive 48, 616269, Autosomal recessive; MRT48 (Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome) (SLC6A17 gene) (Sequence Analysis-All Coding Exons) (Pren

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

Mental retardation, autosomal recessive 48, 616269, Autosomal recessive; MRT48 (Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome) (SLC6A17 gene) (Sequence Analysis-All Coding Exons) (Post

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

Mental retardation, autosomal recessive: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
4848
  • C Sequence analysis of the entire coding region

Results: 1 to 6 of 6

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