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Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

Porokeratosis 1, multiple types, 175800, Autosomal dominant; POROK1 (Porokeratosis of Mibelli) (PMVK 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

Lysosomal and peroxisomal diseases (WES based NGS panel of 122 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
1122
  • C Sequence analysis of the entire coding region

Dermatology Panel 

CGC Genetics Unilabs
Portugal
1277
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

PMVK

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

Porokeratosis: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • C Sequence analysis of the entire coding region

PMVK Single Gene

Fulgent Genetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nevus Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
2628
  • C Sequence analysis of the entire coding region

Results: 1 to 8 of 8

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