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Results: 21 to 40 of 68

Tests names and labsConditionsGenes, analytes, and microbesMethods

Lymphoproliferative syndrome, X-linked, 1, 308240, X-linked recessive; XLP1 (X-linked lymphoproliferative disease) (SH2D1A 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

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

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

Hyper IgM Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Agammaglobulinemia Panel

PreventionGenetics, part of Exact Sciences
United States
1213
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autoimmune Lymphoproliferative Syndrome/ALPS Panel

PreventionGenetics, part of Exact Sciences
United States
1416
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel

Invitae
United States
3724
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Monogenic Inflammatory Bowel Disease Panel

Invitae
United States
10867
  • D Deletion/duplication analysis

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

Invitae
United States
177130
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Agammaglobulinemia Panel

Invitae
United States
3936
  • D Deletion/duplication analysis

X-linked Lymphoproliferative Disease (XLP): SH2D1A (Known Mutation)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • E Sequence analysis of select exons

X-linked Lymphoproliferative Disease (XLP): SH2D1A (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • C Sequence analysis of the entire coding region

Hereditary Lymphoid/Immunodeficiency Predisposition Panel

Genetic Services Laboratory University of Chicago
United States
2766
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel

PreventionGenetics, part of Exact Sciences
United States
2828
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via the SH2D1A Gene

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

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

Hemophagocytic lymphohistiocytosis panel. NGS panel of 15 genes.

Genologica Medica
Spain
1915
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 68

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.