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Results: 1 to 10 of 10

Tests names and labsConditionsGenes and analytesMethods

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1612
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel

CeGaT GmbH
Germany
2955
  • C Sequence analysis of the entire coding region

NFKBIA Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes)

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
3735
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyper IgM Syndrome Panel, Sequencing (12 Genes) and Deletion/Duplication (10 Genes)

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
1312
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NFKBIA

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

NFKBIA Sequencing

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

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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.