Molecular Genetic Testing
Osteoporosis


Indication and Diagnostic Value:

International studies show that about 30% of post-menopausal women carry a mutation in the “collagen type 1 alpha 1 gene”. This mutation is clearly associated with loss in bone mineral density and with an increase in osteoporotic fractures. The genetic test, that can be performed independently on age, identifies women who carry an up to 3 fold increased risk of osteoporosis. Daughters of affected women can use the test to know more about her own (perspective) risk.

If a test outcome is positive, further diagnostic (for instance, bone density determination) measures are recommended. Gene carriers should be directed to an hormone - substitution therapy or other preventive measures.

Samples and Test Method:

IMMD blood stain test paper is required.

By using PCR and restiction fragment analysis the test unambiguously identifies homo – and heterozygous G→T transitions within the first intron of the COL1A1 - gene. The specificity of the diagnosis reaches almost 100%.

Turnaround time for this test is 10 days.

→ list of Molecular Genetic Tests offered by IMMD


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