Skeletal Dysplasia
Skeletal malformations are caused by a number of different hereditary disorders and syndromes resulting from mutations with many genes. The most common syndromes associated with skeletal malformations are achondroplasia, craniosynostosis, acanthosis nigricans, campomelic dysplasia, hypochondroplasia etc.
Skeletal Dysplasia test based on arrayed primer extension technology in combination with sequencing analysis enables to detect 377 mutations in eight genes (FGFR3, FGFR2, COL2A1, SLC26A2, ALPL, ROR2, ESCO2, CHST3 and SOX9SRY) known to be associated with early onset skeletal malformations.
Testing is indicated by fetal increased nuchal translucency in the first trimester and/or skeletal abnormalities detected during the first or second trimester and/or postnataly. The test enables simultaneous detection of 25 syndromes associated with skeletal malformations.
Skeletal Dysplasia test provides valuable diagnostic tool for skeletal malformation of the fetuses with skeletal anomalies, mainly of limbs. Genetic testing gives extended information for genetic counseling and providing more comprehensive prognosis. The test is available with diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
The sample material for prenatal testing is DNA separated from fetal chorionic cells or amniocytes. The amount of DNA required for the test is 3 µg. Recommended DNA concentration is 100-250 ng/µl. Analysis results are available in 2-3 weeks.
In order to exclude maternal DNA contamination fragmentation analysis will be performed. The sample material of fragmentation analysis is 2-4ml whole blood with EDTA anticoagulant or 50 ng genomic DNA.
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