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Results: 1 to 20 of 21

Tests names and labsConditionsGenes, analytes, and microbesMethods

Dysregulation/Autoimmune Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3930
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FERMT1 - NGS including CNV analysis

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

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kindler syndrome, 173650, Autosomal recessive; KNDLRS (Hereditary acrokeratotic poikiloderma of Kindler-Weary) (FERMT1 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

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

Kindler Syndrome via the FERMT1 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis Bullosa and Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
3118
  • 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

Epidermolysis Bullosa

Asper Biogene Asper Biogene LLC
Estonia
4825
  • C Sequence analysis of the entire coding region

FERMT1

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

Kindler Syndrome (FERMT1 Single Gene Test)

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

Kindler Syndrome: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

EPIDERMOLISIS BULLOSA: EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
2622
  • C Sequence analysis of the entire coding region

KINDLER SYNDROME

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

Kindler syndrome

Labor Dr. Wisplinghoff
Germany
11
  • 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

FERMT1 Single Gene

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

FERMT1 Gene Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

EBSeq Epidermolysis Bullosa Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
922
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 21

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.