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Wiedemann-Steiner syndrome (sequence analysis of KMT2A gene)
KMT2A
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Methodology

NGS


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, Dysmorphology


CGC Reference

- 3389




Associated Tests


Detection by FISH of KMT2A (11q23) rearrangements
Acute myelogenous leukemia (detection of mutations PTD on KMT2A gene)
RT-PCR t(4;11)(KMT2A/AF4)
RT-PCR t(9;11) (KMT2A/AF9)
RT-PCR t(11;19) (KMT2A/ENL)