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Results: 41 to 53 of 53

Tests names and labsConditionsGenes, analytes, and microbesMethods

Central skeletal dysplasias panel. NGS panel of 111 genes.

Genologica Medica
Spain
258111
  • C Sequence analysis of the entire coding region

Bardet-Biedl syndrome panel. 23-gene NGS panel.

Genologica Medica
Spain
4423
  • C Sequence analysis of the entire coding region

Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel. 16-gene NGS panel.

Genologica Medica
Spain
2416
  • C Sequence analysis of the entire coding region

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

Ciliopathies

Asper Biogene Asper Biogene LLC
Estonia
166120
  • C Sequence analysis of the entire coding region

IFT172

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Short-rib thoracic dysplasia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1920
  • 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

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

Bardet-Biedl syndrome panel

Molecular Vision Laboratory
United States
3823
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372283
  • 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

Results: 41 to 53 of 53

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