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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

ERCC4 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

VACTERL Association and Related Disorders Panel

PreventionGenetics
United States
12384
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Bone Marrow Failure Panel

PreventionGenetics
United States
268187
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skin and Connective Tissue Disorders Panel

PreventionGenetics
United States
12569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Bone Marrow Failure Syndromes Panel

Invitae
United States
13885
  • D Deletion/duplication analysis

Invitae Fanconi Anemia Panel

Invitae
United States
2615
  • D Deletion/duplication analysis

Xeroderma Pigmentosum Panel

PreventionGenetics
United States
119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Xeroderma Pigmentosum via the ERCC4 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Glomerular Proteinuria NGS Panel

Fulgent Genetics
United States
18276
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progeria Syndrome NGS Panel

Fulgent Genetics
United States
4216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure NGS Panel

Fulgent Genetics
United States
18060
  • D Deletion/duplication analysis
  • 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

Full Comprehensive Cancer Panel

Fulgent Genetics
United States
329127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ERCC4 Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Xeroderma Pigmentosum NGS Panel

Fulgent Genetics
United States
139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fanconi Anemia NGS Panel

Fulgent Genetics
United States
3018
  • 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.