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Results: 1 to 20 of 64

Tests names and labsConditionsGenes, analytes, and microbesMethods

Friedreichs Ataxia

Center for Genetics at Saint Francis Saint Francis Hospital
United States
11
  • T Targeted variant analysis

FXN, Repeat Expansion Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
31
  • T Targeted variant analysis

Frataxin (FXN) gene GAA triplet repeat test

Neurogenetics Department Cyprus Institute of Neurology and Genetics
Cyprus
11
  • T Targeted variant analysis

Friedreich Ataxia (FRDA) via the FXN GAA Repeat Expansion

PreventionGenetics, part of Exact Sciences
United States
11
  • T Targeted variant analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

FXN - Repeat expansion analysis

Centogene AG - the Rare Disease Company
Germany
11
  • T Targeted variant analysis

FXN - 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

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • 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 / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • 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

Friedreich ataxia, 229300, Autosomal recessive (Friedreich ataxia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Friedreich ataxia with retained reflexes, 229300, Autosomal recessive; FRDA (Friedreich ataxia) (FXN 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

Friedreich ataxia with retained reflexes, 229300, Autosomal recessive; FRDA (Friedreich ataxia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Friedreich ataxia, 229300, Autosomal recessive (Friedreich ataxia)(Repeat Analysis)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • T Targeted variant analysis

HCMFirst® reflex HCMNext®

Ambry Genetics
United States
5830
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HCMNext®

Ambry Genetics
United States
5830
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CMNext®

Ambry Genetics
United States
13856
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 64

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.