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Results: 1 to 20 of 45

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

DonorReady Customized Carrier Screen (Select from 204 Genes)

EVOLVEGENE EvolveGene
United States
325204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FamilyReady Carrier Screen (204 Genes)

EVOLVEGENE EvolveGene
United States
325204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis bullosa panel

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

Epidermolysis bullosa, junctional

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

Epidermolysis bullosa Deletion / Duplication panel

Connective Tissue Gene Tests
United States
1323
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa NGS panel

Connective Tissue Gene Tests
United States
1323
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis bullosa Comprehensive panel

Connective Tissue Gene Tests
United States
1323
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
327300
  • C Sequence analysis of the entire coding region

LAMC2. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

LAMA3, LAMB3, LAMC2. Detection of the mutations p.Arg42X (c.124C>T), p.Gln243X (c.727C>T), p.Arg635X (c.1903C>T) and p.Glu320X (c.957ins77) of the LAMB3; p.R95X (c.283C>T) of the LAMC2 and p.Arg650X (c.1948A>T) of the LAMA3 by sequencing

Instituto de Medicina Genomica
Spain
23
  • T Targeted variant analysis

Junctional Epidermolysis Bullosa via the LAMC2 Gene

PreventionGenetics
United States
21
  • 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

EPIDERMOLISIS BULLOSA: NGS PANEL

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

Epidermolysis bullosa (deletion/duplication analysis of KRT14, LAMA3, LAMB3 and LAMC2 genes)

CGC Genetics
Portugal
64
  • D Deletion/duplication analysis

Epidermolysis bullosa (deletion/duplication analysis of KRT14, LAMA3, LAMB3 and LAMC2 genes)

CGC Genetics
Portugal
64
  • D Deletion/duplication analysis

Epidermolysis Bullosa , Deletions-Duplications (MLPA) KRT14, LAMA3, LAMB3, LAMC2 Genes

Reference Laboratory Genetics
Spain
64
  • D Deletion/duplication analysis

Junctional Epidermolysis Bullosa Herlitz Type , Sequencing LAMC2 Gene

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

Junctional Epidermolysis Bullosa Non Herlitz Type , Sequencing LAMC2 Gene

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

Results: 1 to 20 of 45

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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