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Autosomal recessive primary microcephaly 2, with or without cortical malformations (deletion/duplication analysis on WDR62 gene)
WDR62
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Methodology

Real-time quantitative PCR (RT-qPCR)


Specimen Requirements


Descriptive Volume /
Concentration 1
Container Transport
temperature
Sample
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

Specialties

- Rare diseases, Neurology / Neuropediatrics


CGC Reference

- 4874




Associated Tests


Microcephaly, primary type 2, AR (duplication on exon 1 of WDR62 gene)
Microcephaly, primary type 2, AR (sequence analysis of WDR62 gene)