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  1. Osteology

Osteology

Many genetic disorders of the bone cause skeletal and joint abnormalities that may seriously interfere with normal growth and development. By using genetic testing to accurately diagnose your patients, individualized treatments can be accelerated – providing medical solutions to patients and their families.

Abnormal mineralization panel

Our abnormal mineralization panel includes osteogenesis imperfecta caused by COL1A1 and COL1A2, plus differential diagnosis genes necessary to discriminate the real genetic cause. Additionally, our panel covers osteopetrosis and high bone density disorders. Actionable diseases such as hypophosphatasia are included in our panel.

No. of genes:69
TAT:25 days
Coverage:≥99.5% ≥20x

COMMON SYNDROMES AND DISORDERS COVERED

Abnormal mineralization
High bone density disorders
Osteogenesis imperfecta
Osteopetrosis
Low bone density disorders

Get in touch with our Partner Support

Our consultation service is available in several languages.

+49 (0) 381 - 80113 416

Mon. – Fri. 7 a.m.– 8 p.m. CET • Sat. 9 a.m. – 5 p.m. CET

For our US Partners:

+1 (617) 580-2102

Mon. – Fri. 9 a.m. – 5:30 p.m. EST