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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

MAP3K7 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Frontometaphyseal dysplasia Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Frontometaphyseal dysplasia NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
33
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontometaphyseal dysplasia Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontometaphyseal dysplasia 2, 617137, Autosomal dominant; FMD2 (Frontometaphyseal dysplasia) (MAP3K7 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

Frontometaphyseal dysplasia 2, 617137, Autosomal dominant; FMD2 (Frontometaphyseal dysplasia) (MAP3K7 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Frontometaphyseal dysplasia NGS Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontometaphyseal dysplasia Comprehensive Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontometaphyseal dysplasia Deletion / Duplication Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Frontometaphyseal dysplasia Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Frontometaphyseal dysplasia NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
33
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontometaphyseal dysplasia Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontometaphyseal dysplasia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.