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Results: 41 to 56 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Skeletal Ciliopathies

Asper Biogene Asper Biogene LLC
Estonia
2823
  • 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

Short-rib dysplasia Panel

CeGaT GmbH
Germany
813
  • C Sequence analysis of the entire coding region

Jeune syndrome (type 4)

Bioarray
Spain
11
  • 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

TTC21B Single Gene

Fulgent Genetics
United States
31
  • 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
51274672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Hepatic Fibrosis NGS Panel

Fulgent Genetics
United States
4734
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nephronophthisis NGS Panel

Fulgent Genetics
United States
2812
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert and Meckel NGS Panel

Fulgent Genetics
United States
11023
  • 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

Ciliopathies NGS Panel

Fulgent Genetics
United States
14197
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert Syndrome NGS Panel

Fulgent Genetics
United States
3417
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 41 to 56 of 56

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.