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Results: 1 to 20 of 26 (representing 18 labs)

Tests names and labsConditionsGenes and analytesMethods

Hemophagocytic lymphohistiocytosis, familial type 5

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • 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

STXBP2. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Familial Hemophagocytic Lymphohistiocytosis-Type 5 (FHL5) via the STXBP2 Gene

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

Familial Hemophagocytic Lymphohistiocytosis Type 5 , Sequencing STXBP2 Gene

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

FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

Laboratorio de Genetica Clinica SL
Spain
44
  • 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

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

Hemophagocytic lymphohistiocytosis, familial

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
76
  • C Sequence analysis of the entire coding region

Familial hemophagocytic lymphohistiocytosis 5

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

aCGH Deletion/Duplication Analysis

BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin
United States
6065
  • D Deletion/duplication analysis

STXBP2 Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
1414
  • D Deletion/duplication analysis

STXBP2

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

Familial Hemophagocytic Lymphohistiocytosis NGS Panel

Fulgent Genetics
United States
65
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS)

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
1414
  • C Sequence analysis of the entire coding region

Inflammatory Bowel Disease: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
4926
  • D Deletion/duplication analysis
  • 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.

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