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Results: 1 to 20 of 24

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Immunodeficiency, X-linked, with hyper-IgM

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

Hyper IgM Syndrome (HIGM): Four-gene Profile (AICDA, UNG, CD40, CD40LG) (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
14
  • C Sequence analysis of the entire coding region

Hyper IgM Syndrome (HIGM): (CD40LG [TNFSF5] for HIGM1 (Known mutation)

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

Hyper IgM Syndrome (HIGM): (CD40LG [TNFSF5 for HIGM1) (Full Gene Sequencing)

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

X-Linked Hyper IgM Syndrome via the CD40LG gene

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

Combined immunodeficiencies Panel

CeGaT GmbH
Germany
2360
  • C Sequence analysis of the entire coding region

Antibody deficiencies Panel

CeGaT GmbH
Germany
1328
  • C Sequence analysis of the entire coding region

Immunodeficiency, X-linked, with hyper-IgM

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

Immunodeficiency with hyper IgM type 1

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • C Sequence analysis of the entire coding region

Immunodeficiency, X-linked with hyper-IgM (sequence analysis of CD40LG gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Severe Recessive Childhood Diseases

Medizinisch Genetisches Zentrum München MGZ München
Germany
1436
  • C Sequence analysis of the entire coding region

CD40LG Deletion/duplication analysis

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

Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes)

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
3735
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyper IgM Syndrome Panel, Sequencing (12 Genes) and Deletion/Duplication (10 Genes)

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
1312
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CD40LG

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

Inflammatory Bowel Disease: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
4926
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe combined immunodeficiency (SCID) panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
3027
  • C Sequence analysis of the entire coding region

B cell pathology panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
1614
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.