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Results: 21 to 40 of 78

Tests names and labsConditionsGenes, analytes, and microbesMethods

Retinopathy and Optic Atrophy NGS Panel

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

Early-Onset Ataxia NGS Panel

Fulgent Genetics
United States
505132
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Asphyxiating Thoracic Dystrophy NGS Panel

Fulgent Genetics
United States
53
  • 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

Late-Onset Ataxia NGS Panel

Fulgent Genetics
United States
13356
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia NGS Panel

Fulgent Genetics
United States
533149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Heart Defect NGS Panel

Fulgent Genetics
United States
377114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel

Fulgent Genetics
United States
24478
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Plus Panel

Fulgent Genetics
United States
716335
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Panel

Fulgent Genetics
United States
636298
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Plus Panel

Fulgent Genetics
United States
661306
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Panel

Fulgent Genetics
United States
690326
  • 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

JOUBERT SYNDROME (JBTS)

Laboratorio de Genetica Clinica SL
Spain
1113
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10392
  • C Sequence analysis of the entire coding region

Joubert Syndrome Panel

Blueprint Genetics
Finland
136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Hepatic Fibrosis Panel

Blueprint Genetics
Finland
352
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathy Panel

Blueprint Genetics
Finland
699
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert Syndrome

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
522
  • C Sequence analysis of the entire coding region

Ciliopathies

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
4493
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 78

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.