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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome) (IKBKG 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

ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID (Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (Hypohidrotic ectodermal dysplasia) (IKBKG 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

Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (Hypohidrotic ectodermal dysplasia) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome) (IKBKG 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

Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID (Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome) (IKBKG 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

X-Linked Intellectual Disability Panel

PreventionGenetics, part of Exact Sciences
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Incontinentia Pigmenti Common Deletion Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
41
  • T Targeted variant analysis

Incontinentia Pigmenti Common Deletion Analysis

Baylor Genetics
United States
41
  • T Targeted variant analysis

Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes

Reference Laboratory Genetics
Spain
129
  • C Sequence analysis of the entire coding region

HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
22
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Antibody deficiencies Panel

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

Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency

MedGene
Slovakia
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency

Praxis fuer Humangenetik Wien
Austria
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.