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Kabuki syndrome (deletion/duplication analysis on KMT2D gene)
KMT2D
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Methodology

Deletion/duplication analysis by MLPA


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
Fetal DNA ≥ 20 µL [25 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
Amniotic fluid ≥ 5 mL Sterile tube Room temp. 4
Chorionic villus sampling (CVS) ≥ 30 mg Sterile tube + transport medium Room temp. 4
Cell culture 2 x T25 confluent Sterile tube + transport medium Room temp. 2
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)

- 30

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics, Dysmorphology


CGC Reference

- 1633




Associated Tests


Kabuki syndrome (sequence analysis of 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)