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Results: 1 to 9 of 9

Tests names and labsConditionsGenes, analytes, and microbesMethods

ATN1 - Repeat expansion analysis

Centogene AG - the Rare Disease Company
Germany
21
  • T Targeted variant analysis

ATN1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Repeat Expansion Panel

Centogene AG - the Rare Disease Company
Germany
1313
  • T Targeted variant analysis

Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies (CHEDDA) via the ATN1 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
234240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital hypotonia, epilepsy, developmental delay, and digital anomalies: Full gene sequencing

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

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 9 of 9

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