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Results: 41 to 56 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

Limb Abnormalities and Reduction Defects Panel

GeneDx
United States
2476
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
2308
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
1246
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Keutel syndrome

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss and Deafness Panel

Blueprint Genetics
Finland
8179
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromic Hearing Loss Panel

Blueprint Genetics
Finland
686
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia with Abnormal Mineralization Panel

Blueprint Genetics
Finland
232
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Chondrodysplasia punctata Panel

CeGaT GmbH
Germany
68
  • C Sequence analysis of the entire coding region

Selected Genetic Syndromes with skeletal involvement Panel

CeGaT GmbH
Germany
3642
  • C Sequence analysis of the entire coding region

MGP Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MGP Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS Panel

Fulgent Genetics
United States
543178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Keutel syndrome

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Keutel syndrome

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

Results: 41 to 56 of 56

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.