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Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hailey-Hailey disease, 169600, Autosomal dominant; BCPM (Familial benign chronic pemphigus) (ATP2C1 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 Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9545
  • D Deletion/duplication analysis

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

Benign chronic pemphigus Deletion / Duplication Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Benign chronic pemphigus NGS Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Benign chronic pemphigus Comprehensive Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

ATP2C1

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Benign Chronic Pemphigus (ATP2C1 Single Gene Test)

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hailey-Hailey disease

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Single gene testing ATP2C1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Nevus Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
2628
  • C Sequence analysis of the entire coding region

ATP2C1 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Somatic Overgrowth Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
8649
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hailey–Hailey disease

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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.