U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 41 to 57 of 57

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hemophagocytic Lymphohistiocytosis (HLH) Panel 

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mosaic Carrier Test    

GeneDx
United States
11040
  • T Targeted variant analysis

Two Known Familial Variants in a Nuclear Gene

GeneDx
United States
11043
  • T Targeted variant analysis

One Known Familial Variant in a Nuclear Gene

GeneDx
United States
11045
  • T Targeted variant analysis

Very Early Onset Inflammatory Bowel Disease (VEO-IBD) Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
197
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Chronic Granulomatous Disease panel

Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
55
  • C Sequence analysis of the entire coding region

Granulomatous disease, chronic: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • 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

CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
44
  • C Sequence analysis of the entire coding region

Primary Immunodeficiency Panel

Blueprint Genetics
Finland
2275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Diarrhea Panel

Blueprint Genetics
Finland
627
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Chronic Granulomatous Disease Panel

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

Defects of phagocytosis Panel

CeGaT GmbH
Germany
3759
  • C Sequence analysis of the entire coding region

NCF2 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 41 to 57 of 57

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.