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Results: 1 to 20 of 23 (representing 8 labs)

Tests names and labsConditionsGenes and analytesMethods

Comprehensive Neurogenetics Panel (359 genes)

Sherbrooke Genomic Medicine
Canada
6035
  • C Sequence analysis of the entire coding region

Aicardi Goutieres syndrome Panel

Blueprint Genetics
Finland
17
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14354
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SHISA5

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ATRIP

Fulgent Genetics
United States
251
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Essential Epilepsy NGS Panel

Fulgent Genetics
United States
79271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SAMHD1 - Gene sequencing

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

TREX1 - Gene sequencing

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

RNASEH2C - Gene sequencing

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

IFIH1 - Gene sequencing

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

RNASEH2A - Gene sequencing

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

RNASEH2B - Gene sequencing

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

Small vessel disease Panel

CeGaT GmbH
Germany
116
  • C Sequence analysis of the entire coding region

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel

CeGaT GmbH
Germany
69177
  • C Sequence analysis of the entire coding region

Basal ganglia calcification Panel

CeGaT GmbH
Germany
5327
  • C Sequence analysis of the entire coding region

Leukodystrophy and Leukoencephalopathy Panel

CeGaT GmbH
Germany
3635
  • C Sequence analysis of the entire coding region

Leukodystrophy / Leukencephalopathy Panel

CeGaT GmbH
Germany
3635
  • C Sequence analysis of the entire coding region

Aicardi-Goutières Syndrome Panel

CeGaT GmbH
Germany
76
  • C Sequence analysis of the entire coding region

Epileptic Encephalopathy Panel

CeGaT GmbH
Germany
2577
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 23

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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