Predictive tests for bone diseases
We are by your side to support you with a test, unique of its kind, in the genetic diagnosis of diseases of the skeletal system.
Our genetic tests are dedicated to the early diagnosis of different bone diseases, ensuring high quality standards at every stage of the predictive process and in the interpretation of data.
Our genetic tests are dedicated to investigating specific pathologies and related diagnostic evidence.
Why take the tests
The tests represent a useful tool not only for corroborating the clinical diagnosis of skeletal system diseases, but also for the purpose of determining the most suitable therapeutic strategies.
Who they are for
The tests are aimed at all patients involved in a diagnostic process, in whose anamnesis the suspicion of a pathology of mineral and bone metabolism of genetic aetiology arises.
What the tests detect
The tests analyze the coding sequence and the related exon / intron junctions of the genes involved in congenital bone dysplasias, bone mineralization defects and congenital disorders of the parathyroid glands.
Reliability
The analyzes have analytical sensitivity and specificity greater than 99%. Tests detect small sequence variations (single nucleotide changes, insertions / deletions of a few base pairs).
| EXTENDED PANELS | SUBPANELS (included in the corresponding extended panels) |
|---|---|
| MINERALIZATION DISORDERS AND BONE FRAGILITY |
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| SCLEROSING BONE DYSPLASIAS |
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| SKELETAL DYSPLASIAS WITH SHORT STATURE |
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| SKELETAL DYSPLASIAS WITH TALL STATURE AND/OR SEGMENTAL OVERGROWTH | |
| CRANIOFACIAL SKELETAL ANOMALIES | |
| CONGENITAL LIMB ANOMALIES (SYNDROMIC AND NON-SYNDROMIC) |
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| EPIPHYSEAL AND/OR METAPHYSEAL DYSPLASIAS | |
| SKELETAL DYSPLASIAS WITH VERTEBRAL INVOLVEMENT | |
| SHORT-RIB SKELETAL DYSPLASIAS | |
| LYSOSOMAL STORAGE DISEASES WITH SKELETAL INVOLVEMENT | |
| SYNDROMES WITH JOINT HYPERMOBILITY | |
| EHLERS-DANLOS SYNDROME (AND RELATED DISORDERS) AND MARFANOID SYNDROMES |
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