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KBG syndrome (sequence analysis of ANKRD11 gene)
ANKRD11
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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)

- 45

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 2020




Associated Tests


KBG syndrome (deletion/duplication analysis on ANKRD11 gene)
Autism (WES based NGS panel of 156 genes, including CNV analysis)
Skeletal Dysplasia (WES based NGS panel of 531 genes, including CNV analysis, including CNV analysis)
Clefting (WES based NGS panel of 231 genes, including CNV analysis)