U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

LAMB3 - 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 Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

Invitae
United States
9545
  • D Deletion/duplication analysis

Amelogenesis imperfecta, type IA, 104530, Autosomal dominant; AI1A (Amelogenesis imperfecta) (MLPA)

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

Amelogenesis imperfecta, type IA, 104530, Autosomal dominant; AI1A (Amelogenesis imperfecta) (LAMB3 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

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skin and Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amelogenesis and Dentinogenesis Imperfecta Panel

PreventionGenetics, part of Exact Sciences
United States
2834
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amelogenesis imperfecta and dentinogenesis imperfecta panel. NGS panel of 15 genes.

Genologica Medica
Spain
2214
  • C Sequence analysis of the entire coding region

Dermatological. Full panel

Genologica Medica
Spain
12268
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa panel. NGS panel of 24 genes.

Genologica Medica
Spain
5524
  • C Sequence analysis of the entire coding region

Epidermolysis Bullosa

Asper Biogene Asper Biogene LLC
Estonia
4825
  • C Sequence analysis of the entire coding region

LAMB3

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Amelogenesis imperfecta: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1817
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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.