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Results: 1 to 20 of 35

Tests names and labsConditionsGenes, analytes, and microbesMethods

Prenatal Skeletal Dysplasia Panel

GeneDx
United States
1748
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia

GeneDx
United States
1029
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypomagnesemia NGS Panel

Fulgent Genetics
United States
12123
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders NGS Panel

Fulgent Genetics
United States
39283
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel

Fulgent Genetics
United States
18815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosynostosis NGS Panel

Fulgent Genetics
United States
33961
  • D Deletion/duplication analysis
  • 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

Skeletal Dysplasias Core Panel

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

SPRY4 Single Gene

Fulgent Genetics
United States
381
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

WDR60 Single Gene

Fulgent Genetics
United States
561
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

WDR34 Single Gene

Fulgent Genetics
United States
571
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HDAC6 Single Gene

Fulgent Genetics
United States
341
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HS6ST1 Single Gene

Fulgent Genetics
United States
411
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IFT172 Single Gene

Fulgent Genetics
United States
851
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IL17RD Single Gene

Fulgent Genetics
United States
441
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

P4HB Single Gene

Fulgent Genetics
United States
341
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DCHS1 Single Gene

Fulgent Genetics
United States
491
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 35

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.