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Kabuki syndrome (sequence analysis of KMT2D 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

CPT Codes

- 81479


- Rare diseases, Neurology / Neuropediatrics, Pediatrics

CGC Reference

- 982

Associated Tests

Kabuki syndrome (deletion/duplication analysis on KMT2D gene)
Syndromic combined immunodeficiencies (ICDs) or with associated symptoms (WES based NGS panel of 63 genes, including CNV analysis)
Hyperinsulinism familial (WES based NGS panel of 20 genes, including CNV analysis)