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Results: 1 to 20 of 39 (representing 15 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Aicardi-Goutieres syndrome type 4

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

Aicardi-Goutières Syndrome 4 via the RNASEH2A Gene

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

Aicardi-Goutieres Syndrome Sequencing Panel

PreventionGenetics
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RNASEH2A. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

TREX1. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

RNASEH2B. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

SAMHD1. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

RNASEH2C. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

Aicardi-Goutieres Syndrome 4 - RNASEH2A Del/Dup Analysis

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • D Deletion/duplication analysis

Aicardi-Goutieres Syndrome 4 - RNASEH2A Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • C Sequence analysis of the entire coding region

Aicardi-Goutieres Syndrome Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RNASEH2A Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • C Sequence analysis of the entire coding region

Leukodistrophy

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
4658
  • C Sequence analysis of the entire coding region

Aicardi-Goutieres syndrome

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
66
  • C Sequence analysis of the entire coding region

RNASEH2A - Gene sequencing

Genome Diagnostics VU University Medical Center
Netherlands
21
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Aicardi-Goutieres syndrome type 4

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Epileptic encephalopathy (NGS panel for 67 genes)

CGC Genetics
Portugal
6367
  • C Sequence analysis of the entire coding region

Aicardi-Goutieres syndrome 3 (sequence analysis of RNASEH2C gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Dystonia: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
7979
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 39

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.

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