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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

Invitae
United States
9545
  • D Deletion/duplication analysis

Dermatopathia pigmentosa reticularis, 125595, Autosomal dominant; DPR (Dermatopathia pigmentosa reticularis) (KRT14 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

Dermatopathia pigmentosa reticularis, 125595, Autosomal dominant; DPR (Dermatopathia pigmentosa reticularis) (MLPA)

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

Skin and Connective Tissue Disorders Panel

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

Invitae Ectodermal Dysplasia and Related Disorders Panel

Invitae
United States
14873
  • D Deletion/duplication analysis

Epidermolysis Bullosa Simplex (EBS) via the KRT14 Gene

PreventionGenetics, Part of Exact Sciences
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

KRT14 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
61
  • D Deletion/duplication analysis

Dermatological. Full panel

Genologica Medica
Spain
12368
  • C Sequence analysis of the entire coding region

Palmoplantar keratoderma panel. 25-gene NGS panel.

Genologica Medica
Spain
6225
  • 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

Dermatopathia pigmentosa reticularis: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • 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

KRT14

Institute for Human Genetics University Medical Center Freiburg
Germany
61
  • C Sequence analysis of the entire coding region

KRT14 Single Gene

Fulgent Genetics
United States
61
  • 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

Epidermolysis Bullosa NGS Panel

Fulgent Genetics
United States
3213
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.