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Results: 41 to 57 of 57

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Skeletal Dysplasias Core Panel

Blueprint Genetics
Finland
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
72536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
318252
  • 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

3-M Syndrome / Primordial Dwarfism Panel

Blueprint Genetics
Finland
824
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Meier-Gorlin Syndrome Panel

Blueprint Genetics
Finland
16
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Meier-Gorlin syndrome

Bicknell laboratory University of Otago
New Zealand
87
  • C Sequence analysis of the entire coding region

CDC6 Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • 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

Microcephaly

Asper Biogene Asper Biogene LLC
Estonia
11196
  • C Sequence analysis of the entire coding region

CDC6 Single Gene

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

Meier-Gorlin Syndrome NGS Panel

Fulgent Genetics
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primordial Dwarfism NGS Panel

Fulgent Genetics
United States
1612
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Meier-Gorlin Syndrome 5

Molecular Diagnostics Lab Nemours Children's Health, Delaware
United States
11
  • C Sequence analysis of the entire coding region

Results: 41 to 57 of 57

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.