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Results: 1 to 20 of 21

Tests names and labsConditionsGenes, analytes, and microbesMethods

SCID Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6550
  • C Sequence analysis of the entire coding region

Bcell/Antibody Deficiency GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
7961
  • C Sequence analysis of the entire coding region

IKZF1 - NGS including CNV analysis

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

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
250155
  • C Sequence analysis of the entire coding region

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
267186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Immunodeficiency, common variable, 13, 616873, Autosomal dominant; CVID13 (Pancytopenia due to IKZF1 mutations) (IKZF1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Immunodeficiency, common variable, 13, 616873, Autosomal dominant; CVID13 (Pancytopenia due to IKZF1 mutations) (IKZF1 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

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

Common Variable Immune Deficiency (CVID) Panel

PreventionGenetics, part of Exact Sciences
United States
1516
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Myeloid Malignancy Panel

Genetic Services Laboratory University of Chicago
United States
3785
  • D Deletion/duplication analysis
  • 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

Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
5075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone marrow failure syndrome panel. NGS panel of 122 genes.

Genologica Medica
Spain
194122
  • C Sequence analysis of the entire coding region

Hereditary leukemia panel. NGS panel of 39 genes.

Genologica Medica
Spain
8939
  • C Sequence analysis of the entire coding region

Humoral dysfunction panel

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
2525
  • C Sequence analysis of the entire coding region

Immunodeficiency, common variable: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1313
  • C Sequence analysis of the entire coding region

IKZF1 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Leukemia and Breast Cancer Panel

Genetic Services Laboratory University of Chicago
United States
731
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 21

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.