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Results: 1 to 20 of 25

Tests names and labsConditionsGenes, analytes, and microbesMethods

Tempus xT

Tempus Labs, Inc.
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

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

Invitae
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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • 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

MAP3K7

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Clefting (WES based NGS panel of 231 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1231
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias and Disorders Panel 

CGC Genetics Unilabs
Portugal
1606
  • C Sequence analysis of the entire coding region

Skeletal Diseases Panel

Mendelics
Brazil
1333
  • C Sequence analysis of the entire coding region

OncoAlly™ Solid Tumor Analysis

Variantyx, Inc.
United States
1433
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • R RNA analysis

Cardiospondylocarpofacial syndrome: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • 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

Results: 1 to 20 of 25

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.