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Results: 1 to 20 of 61

Tests names and labsConditionsGenes and analytesMethods

Epidermolysis bullosa panel

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

New Born testing (CentoICU)

Centogene AG - the Rare Disease Company
Germany
767514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

Skin and Connective Tissue Disorders Sequencing Panel with CNV Detection

PreventionGenetics
United States
12468
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related

Counsyl
United States
21
  • C Sequence analysis of the entire coding region

Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related

Counsyl
United States
21
  • C Sequence analysis of the entire coding region

Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related

Counsyl
United States
21
  • C Sequence analysis of the entire coding region

Amelogenesis Imperfecta Sequencing Panel with CNV Detection

PreventionGenetics
United States
2018
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

LAMA3. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • 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

COL17A1. 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 LAMC2 Gene Sequencing with CNV Detection

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Junctional Epidermolysis Bullosa via LAMB3 Gene Sequencing with CNV Detection

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Junctional Epidermolysis Bullosa via LAMA3 Gene Sequencing with CNV Detection

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
3118
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LAMA3

Institute for Human Genetics University Clinic Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

LAMC2

Institute for Human Genetics University Clinic Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

LAMB3

Institute for Human Genetics University Clinic Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 61

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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