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Results: 1 to 20 of 28 (representing 12 labs)

Tests names and labsConditionsGenes and analytesMethods

Keratosis palmoplantaris striata II

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

Cardiomyopathy, dilated with woolly hair and keratoderma

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

Skin fragility-woolly hair syndrome

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arrythmogenic Cardiomyopathy Panel

Health in Code S.L.
Spain
5517
  • C Sequence analysis of the entire coding region

KRT1. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

DSP. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

DSG1. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP -Related Disorders via the DSP Gene

PreventionGenetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

DSP Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
61
  • C Sequence analysis of the entire coding region

Keratosis palmoplantaris striata II

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

DSP

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

Arrhythmogenic Right Ventricular Cardiomyopathy Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
209
  • C Sequence analysis of the entire coding region

DSP Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
41
  • D Deletion/duplication analysis

DSP

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypertrophic Cardiomyopathy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
15063
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dilated Cardiomyopathy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
8732
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DSP Gene Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
51
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing and Deletion/Duplication Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arrhythmias: Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
6029
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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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