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Results: 1 to 16 of 16

Tests names and labsConditionsGenes and analytesMethods

Epidermolytic hyperkeratosis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ichthyosiform erythroderma, congenital, nonbullous type 1

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epidermolytic hyperkeratosis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epidermolytic Hyperkeratosis via the KRT1 Gene

PreventionGenetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

KRT10. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

KRT1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

EPIDERMOLISIS BULLOSA: NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
2520
  • C Sequence analysis of the entire coding region

ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL

Laboratorio de Genetica Clinica SL
Spain
12
  • C Sequence analysis of the entire coding region

TMEM99

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

Epidermolytic hyperkeratosis (sequence analysis of KRT1 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Epidermolytic hyperkeratosis (sequence analysis of KRT10 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Ichthyoses and related disorders of cornification Panel

CeGaT GmbH
Germany
4265
  • C Sequence analysis of the entire coding region

KRT1

Fulgent Genetics
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KRT10

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

KRT1

Institute for Human Genetics University Clinic Freiburg
Germany
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KRT10

Institute for Human Genetics University Clinic Freiburg
Germany
31
  • 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.

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