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Results: 61 to 77 of 77

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

Limb Malformations Panel

Blueprint Genetics
Finland
445
  • 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

Comprehensive Short Stature Syndrome Panel

Blueprint Genetics
Finland
475
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromal Diseases - panels

MGZ Medical Genetics Center
Germany
14342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental Retardation and Dysmorphology - panels

MGZ Medical Genetics Center
Germany
15343
  • D Deletion/duplication analysis
  • 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

CAKUT

Hildebrandt Laboratory Boston Children's Hospital
United States
2204
  • C Sequence analysis of the entire coding region

Ulnar-mammary syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Congenital Heart Defects Panel

CeGaT GmbH
Germany
4244
  • C Sequence analysis of the entire coding region

TBX3 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

Ulnar-Mammary Syndrom

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

Ulnar-Mammary Syndrom

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

Results: 61 to 77 of 77

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.