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Results: 21 to 30 of 30

Tests names and labsConditionsGenes, analytes, and microbesMethods

Orofaciodigital syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
88
  • C Sequence analysis of the entire coding region

OROFACIODIGITAL SYNDROME TYPE 6

Laboratorio de Genetica Clinica SL
Spain
11
  • 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

Joubert Syndrome Panel

Molecular Vision Laboratory
United States
4824
  • C Sequence analysis of the entire coding region

Joubert syndrome

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1816
  • C Sequence analysis of the entire coding region

Hereditary Ataxia

Asper Biogene Asper Biogene LLC
Estonia
180139
  • C Sequence analysis of the entire coding region

Potentially lethal skeletal disorders Panel

CeGaT GmbH
Germany
4544
  • 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

Invitae Joubert and Meckel-Gruber Syndromes Panel

Invitae
United States
4330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 30 of 30

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