U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...

Other countries

Results: 1 to 20 of 26

Tests names and labsConditionsGenes, analytes, and microbesMethods

Autoinflammatory Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
182117
  • C Sequence analysis of the entire coding region

Early Onset IBD Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
163110
  • C Sequence analysis of the entire coding region

Bcell/Antibody Deficiency GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
7961
  • C Sequence analysis of the entire coding region

PLCG2 - 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

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Diarrhea Panel

Invitae
United States
12183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878, Autosomal dominant (Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation) (PLCG2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878, Autosomal dominant (Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation) (PLCG2 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

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, Part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Primary Antibody Deficiency Panel

PreventionGenetics, Part of Exact Sciences
United States
5046
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autoinflammation: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
66
  • C Sequence analysis of the entire coding region

PLCG2

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Primary Antibody Deficiency NGS Panel

Fulgent Genetics
United States
10237
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Periodic Fever/Autoinflammatory Disorders NGS Panel

Fulgent Genetics
United States
6828
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes

Reference Laboratory Genetics
Spain
4545
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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.