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Mandibulofacial dysostosis with microcephaly (sequence analysis of EFTUD2 gene)
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Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
1 When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2 Maximum shipping time to ensure sample quality

Turnaround Time (Days)

- 60


- Rare diseases, Neurology / Neuropediatrics, Pediatrics

CGC Reference

- 2725

Associated Tests

Microcephaly and pontocerebellar hypoplasia (NGS panel for 53 genes)
Treacher-Collins syndrome and differential diagnosis (NGS panel of 8 genes)
Limb reduction defects (WES based NGS panel of 144 genes, including CNV analysis)