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Results: 1 to 20 of 44 (representing 31 labs)

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

Agammaglobulinemia panel

Centogene AG - the Rare Disease Company
Germany
99
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

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

X-Linked Agammaglobulinemia

Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
United States
21
  • C Sequence analysis of the entire coding region

X-linked Agammaglobulinemia (XLA): BTK (Known Mutation)

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

X-linked Agammaglobulinemia (XLA): BTK (Full Gene Sequencing)

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

BTK. Complete sequencing

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

BTK. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

X-linked Agammaglobulinemia via the BTK 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 Agammaglobulinemia, Sequencing BTK Gene

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

GeneAware Complete Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories
United States
175159
  • 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
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

Invitae Agammaglobulinemia Panel

Invitae
United States
116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-linked agammaglobulinemia

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

Antibody deficiencies Panel

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

Results: 1 to 20 of 44

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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