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Results: 1 to 20 of 62

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Invasive pneumococcal disease, recurrent isolated, 2

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Immunodeficiency, isolated

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Incontinentia pigmenti, type II

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia, hypohidrotic, with immune deficiency

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Atypical mycobacteriosis, familial

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection

PreventionGenetics
United States
141154
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Known Mutation)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • E Sequence analysis of select exons

Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • C Sequence analysis of the entire coding region

IKBKG. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

IKBKG. Detection of the exon 4-10 deletion

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

IKBKG. Chromosome X inactivation analysis

Instituto de Medicina Genomica
Spain
11
  • L Linkage analysis

Incontinentia Pigmenti Common Deletion Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
61
  • T Targeted variant analysis

Incontinentia Pigmenti Common Deletion Analysis

Baylor Miraca Genetics Laboratories
United States
61
  • T Targeted variant analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Incontinentia Pigmenti: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes

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

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes

Reference Laboratory Genetics
Spain
4645
  • C Sequence analysis of the entire coding region

Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes

Reference Laboratory Genetics
Spain
4341
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
1186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 62

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.

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