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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

KRT5 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • 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

Epidermolysis bullosa simplex-MP, 131960, Autosomal dominant; EBSMP (Epidermolysis bullosa simplex with mottled pigmentation) (Prenatal) (MLPA)

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

Epidermolysis bullosa simplex-MP, 131960, Autosomal dominant; EBSMP (Epidermolysis bullosa simplex with mottled pigmentation) (KRT5 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

Dowling-Degos disease 1, 179850, Autosomal dominant; DDD1 (Dowling-Degos disease) (MLPA)

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

Dowling-Degos disease 1, 179850, Autosomal dominant; DDD1 (Dowling-Degos disease) (KRT5 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

Dowling-Degos disease 1, 179850, Autosomal dominant; DDD1 (Dowling-Degos disease) (Prenatal) (MLPA)

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

Dowling-Degos disease 1, 179850, Autosomal dominant; DDD1 (Dowling-Degos disease) (KRT5 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

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

KRT5 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
71
  • D Deletion/duplication analysis

Dermatological. Full panel

Genologica Medica
Spain
12368
  • 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

KRT5

Institute for Human Genetics University Medical Center Freiburg
Germany
71
  • C Sequence analysis of the entire coding region

Reticulate pigment disorders: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • C Sequence analysis of the entire coding region

Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
66
  • C Sequence analysis of the entire coding region

Dowling-Degos Disease Type 1 , Sequencing KRT5 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Single gene testing KRT5

CeGaT GmbH
Germany
71
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.