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Results: 1 to 20 of 23

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa panel

Centogene AG - the Rare Disease Company
Germany
2822
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Plectinopathy via the PLEC Gene

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

Epidermolysis Bullosa with Pyloric Atresia via the PLEC Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection

PreventionGenetics
United States
2615
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis Bullosa , Panel Massive Sequencing (NGS) 8 Genes

Reference Laboratory Genetics
Spain
168
  • C Sequence analysis of the entire coding region

Expanded Neuromuscular Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
15277
  • D Deletion/duplication analysis

EPIDERMOLISIS BULLOSA: NGS PANEL

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

PLEC

Institute for Human Genetics University Clinic Freiburg
Germany
51
  • C Sequence analysis of the entire coding region

EPIDERMOLYSIS BULLOSA

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1610
  • C Sequence analysis of the entire coding region

Single gene testing PLEC

CeGaT GmbH
Germany
41
  • C Sequence analysis of the entire coding region

Genetic Epidermolyses and blistering disorders Panel

CeGaT GmbH
Germany
2319
  • C Sequence analysis of the entire coding region

PLEC1 Deletion/duplication analysis

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

PLEC

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

PLEC1 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
41
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
7434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Expanded Neuromuscular Disorders: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
15378
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
10246
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular NGS Panel

Fulgent Genetics
United States
12650
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 23

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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