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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Bcell/Antibody Deficiency GenePanel

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoImmuno Panel

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

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Cholestasis Panel

Invitae
United States
210134
  • D Deletion/duplication analysis

Invitae Supplemental Metabolic Newborn Screening Panel

Invitae
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Immunodeficiency 47, 300972, X-linked recessive; IMD47 (ATP6AP1 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 47, 300972, X-linked recessive; IMD47 (ATP6AP1 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

Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
166101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Congenital Disorders of Glycosylation (CDG) Panel

PreventionGenetics, part of Exact Sciences
United States
5654
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Common Variable Immunodeficiency Panel

Invitae
United States
4936
  • D Deletion/duplication analysis

Invitae Copper Metabolism Disorders Panel

Invitae
United States
1510
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Disorders of Glycosylation Panel

Invitae
United States
203152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos Syndromes (EDS) Panel

PreventionGenetics, part of Exact Sciences
United States
9965
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Immunodeficiency: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
6960
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.