Osteogenesis Imperfecta Panel
€29.00
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This product is only meant for customers who already purchased a Dante Genome Test
Osteogenesis Imperfecta indicates a rare, congenital medical condition that affects the connective tissue of the bone. Characterized by a high phenotypic variability, OI is determined by mutations in several genes, of which COL1A1 and COL1A2 are the most involved.
This test is indicated for those who have a positive family history of the condition, which is mostly transmitted in an autosomal dominant manner, and/or for those who show signs of the pathology. Among these, bone fragility, blue sclerae, defects in dentinogenesis, scoliosis and laxity in ligaments, etc.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
List of main conditions:
Osteogenesis Imperfecta indicates a rare, congenital medical condition that affects the connective tissue of the bone. Characterized by a high phenotypic variability, OI is determined by mutations in several genes, of which COL1A1 and COL1A2 are the most involved.
This test is indicated for those who have a positive family history of the condition, which is mostly transmitted in an autosomal dominant manner, and/or for those who show signs of the pathology. Among these, bone fragility, blue sclerae, defects in dentinogenesis, scoliosis and laxity in ligaments, etc.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
- Available in less than 24 hours
- Based on Whole Genome Sequencing
- More than 30 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Odontohypophosphatasia
- Ehlers-Danlos syndrome, spondylodysplastic type, 1
- Osteogenesis imperfecta, different types
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