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Results: 1 to 20 of 124

Tests names and labsConditionsGenes, analytes, and microbesMethods

Early Onset IBD Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
163110
  • C Sequence analysis of the entire coding region

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic DNA Test

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

Cardiomyopathies General Panel

Health in Code
Spain
1173
  • C Sequence analysis of the entire coding region

Arrhythmia General Panel

Health in Code
Spain
1218
  • C Sequence analysis of the entire coding region

Dilated Cardiomyopathy Panel

Health in Code
Spain
139
  • C Sequence analysis of the entire coding region

Cardiovascular Diseases_General Panel

Health in Code
Spain
1380
  • C Sequence analysis of the entire coding region

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

COL7A1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199164
  • 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

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

Invitae
United States
9545
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Epidermolysis bullosa Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1323
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis bullosa NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1323
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis bullosa Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1323
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa dystrophica, AD, 131750, Autosomal dominant (Generalized dominant dystrophic epidermolysis bullosa) (COL7A1 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

Epidermolysis bullosa dystrophica, AD, 131750, Autosomal dominant (Generalized dominant dystrophic epidermolysis bullosa) (MLPA)

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

Epidermolysis bullosa pruriginosa, 604129, Autosomal recessive, Autosomal dominant (Dystrophic epidermolysis bullosa pruriginosa) (COL7A1 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

Results: 1 to 20 of 124

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.