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Macrocephaly, dysmorphic facies, and psychomotor retardation (sequence analysis of HERC1 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

CGC Reference

- 4271

Associated Tests

Macrosomic syndromes (WES based NGS panel of 35 genes, including CNV analysis)