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Results: 1 to 20 of 42 (representing 25 labs)

Tests names and labsConditionsGenes and analytesMethods

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Lymphoproliferative syndrome, X-linked type 1

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

SH2D1A-Related X-linked lymphoproliferative disease (XLP)

Ambry Genetics
United States
11
  • C Sequence analysis of the entire coding region

Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel

PreventionGenetics
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SH2D1A. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

XIAP. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

SH2D1A. MLPA testing

Instituto de Medicina Genomica
Spain
21
  • D Deletion/duplication analysis

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

PreventionGenetics
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
242171
  • D Deletion/duplication analysis

X-Linked Lymphoproliferative Syndrome Type 1 , Sequencing SH2D1A Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel

Invitae
United States
3621
  • D Deletion/duplication analysis
  • 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 Monogenic Inflammatory Bowel Disease Panel

Invitae
United States
8746
  • 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

Humoral dysfunction Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Humoral dysfunction Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2624
  • C Sequence analysis of the entire coding region

Humoral dysfunction Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2624
  • D Deletion/duplication analysis

Immune Dysregulation Disorders Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3223
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 42

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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