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Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250, Autosomal dominant; DMSMFH (Diaphyseal medullary stenosis-bone malignancy syndrome) (MTAP 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

MTAP - NGS including CNV analysis

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

Abnormal Mineralization Panel

Centogene AG - the Rare Disease Company
Germany
9595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteopetrosis and Dense bone dysplasia Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (sequence analysis of MTAP gene)

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

Diaphyseal medullary stenosis with malignant fibrous histiocytoma: Full gene sequencing

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

Comprehensive Hereditary Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
128130
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasia with increased bone density Panel

CeGaT GmbH
Germany
2628
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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