ACRODYSOSTOSIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
850,00€
This panel studies acrodysostosis and related phenotypes such as severe brachydactyly, facial dysplasia, growth retardation, hormonal resistance (PTH/TSH), and varying disability. NGS/CNV analysis supports endocrinological and orthopedic diagnosis and management. Genes analyzed: PDE4D, PRKAR1A.
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