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Results: 1 to 20 of 50

Tests names and labsConditionsGenes, analytes, and microbesMethods

LAMTOR2 Gene Immunodeficiency due to defect in MAPBP-interacting protein NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

LAMTOR2 - 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

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

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Phagocytic Disorders Including Neutropenia Panel

Invitae
United States
9268
  • D Deletion/duplication analysis
  • 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 due to defect in MAPBP-interacting protein, 610798, Autosomal recessive (Primary immunodeficiency syndrome due to p14 deficiency) (LAMTOR2 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 due to defect in MAPBP-interacting protein, 610798, Autosomal recessive (Primary immunodeficiency syndrome due to p14 deficiency) (LAMTOR2 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

Congenital Neutropenia Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
224
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Severe Congenital Neutropenia Panel

PreventionGenetics, part of Exact Sciences
United States
2625
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary neutropenia (WES based NGS panel of 35 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
135
  • C Sequence analysis of the entire coding region

Lysosomal and peroxisomal diseases (WES based NGS panel of 122 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
1122
  • C Sequence analysis of the entire coding region

Hematology Comprehensive Panel 

CGC Genetics Unilabs
Portugal
1291
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Syndrome Panel 

CGC Genetics Unilabs
Portugal
1175
  • C Sequence analysis of the entire coding region

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

Immunodeficiencies and Immunologic Diseases Panel (Complete)

Mendelics
Brazil
1397
  • C Sequence analysis of the entire coding region

BONE MARROW FAILURE SYNDROME PANEL

Laboratorio de Genetica Clinica SL
Spain
1165
  • E Sequence analysis of select exons

CONGENITAL NEUTROPENIA SYNDROME PANEL

Laboratorio de Genetica Clinica SL
Spain
138
  • E Sequence analysis of select exons

Results: 1 to 20 of 50

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.