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Kabuki syndrome (sequence analysis of KMT2D gene)
KMT2D
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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
CPT Codes
- 81479
Specialties
- 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)