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Results: 1 to 20 of 27

Tests names and labsConditionsGenes and analytesMethods

Dystonia Exome Panel

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

Aicardi-Goutieres Syndrome NGS Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
87
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
282207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Mendelian Susceptibility to Mycobacterial Disease Panel

Invitae
United States
3316
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Monogenic Autoimmunity Panel

Invitae
United States
10973
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Aicardi-Goutières 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
3032447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Essential Epilepsy NGS Panel

Fulgent Genetics
United States
79370
  • 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
69175
  • C Sequence analysis of the entire coding region

Basal ganglia calcification Panel

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

Results: 1 to 20 of 27

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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