U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...

Other countries

Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

Inheritest 300 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
172350
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Inheritest 500 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Inheritest High Frequency panel

Integrated Genetics Westborough LabCorp
United States
109110
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • 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

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

Hereditary kidney disorders - different panels

Institute of Human Genetics Cologne University
Germany
32481
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel

Invitae
United States
2217
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel

Blueprint Genetics
Finland
116
  • 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

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
4847
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
4847
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Ciliopathies Panel

Invitae
United States
144102
  • 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

Retinitis Pigmentosa NGS Panel

Fulgent Genetics
United States
329124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.