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Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

Meleda disease, 248300, Autosomal recessive; MDM (Mal de Meleda) (SLURP1 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

SLURP1 - NGS including CNV analysis

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

Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9545
  • D Deletion/duplication analysis

Meleda disease (sequence analysis of SLURP1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Palmoplantar keratoderma panel. 25-gene NGS panel.

Genologica Medica
Spain
6225
  • C Sequence analysis of the entire coding region

SLURP1

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

Mal De Meleda (SLURP1 Single Gene Test)

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

TRANSGREDIENS PALMOPLANTAR KERATODERMA OF SIEMENS (MELEDA DISEASE)

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

Meleda disease

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

SLURP1

Institute of Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

SLURP1 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 12 of 12

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