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Results: 1 to 6 of 6

Tests names and labsConditionsGenes, analytes, and microbesMethods

NLRP1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autoinflammation with arthritis and dyskeratosis, 617388, Autosomal recessive, Autosomal dominant; AIADK (Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome) (NLRP1 gene) (Sequence Analysis-All Coding Exons) (

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Autoinflammation with arthritis and dyskeratosis, 617388, Autosomal recessive, Autosomal dominant; AIADK (Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome) (NLRP1 gene) (Sequence Analysis-All Coding Exons) (

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Autoinflammation: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
66
  • C Sequence analysis of the entire coding region

NLRP1

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
9562
  • C Sequence analysis of the entire coding region

Results: 1 to 6 of 6

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