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Results: 1 to 6 of 6

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Pyle disease, 265900, Autosomal recessive; PYL (Pyle disease) (SFRP4 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Invitae
United States
12065
  • D Deletion/duplication analysis

SFRP4

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Metaphyseal Dysplasia Panel

Blueprint Genetics
Finland
411
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LONP1 Single Gene

Fulgent Genetics
United States
541
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 6 of 6

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