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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981, Autosomal recessive; NKGCD (Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency) (MCM4 gene) (Sequence Analysis-All Coding Exons) (Prenata

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

Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981, Autosomal recessive; NKGCD (Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency) (MCM4 gene) (Sequence Analysis-All Coding Exons) (Postnat

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

Molybdenum cofactor deficiency A (sequence analysis of MOCS1 gene)

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

MCM4 - NGS including CNV analysis

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

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • 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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Invitae Hereditary Lymphoma Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
8543
  • D Deletion/duplication analysis

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
177130
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
552424
  • D Deletion/duplication analysis

MCM4 Gene Sequencing (2 day STAT TAT)

Machaon Diagnostics
United States
11
  • E Sequence analysis of select exons

Severe-Chronic EBV (CAEBV) Immunodeficiency Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
7044
  • C Sequence analysis of the entire coding region

Immunodeficiency: Full gene sequencing panel

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

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Defects in innate immunity Panel

CeGaT GmbH
Germany
1619
  • C Sequence analysis of the entire coding region

Syndromes with immunodeficiency Panel

CeGaT GmbH
Germany
3338
  • C Sequence analysis of the entire coding region

MCM4 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • 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.