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Schwannomatosis (deletion/duplication analysis of SMARCB1 gene)
SMARCB1
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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
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)

- 30

Specialties

- Rare diseases, Oncology


CGC Reference

- 4162




Associated Tests


Rhabdoid tumor syndrome | Schwannomatosis (sequence analysis of SMARCB1 gene)
Rhabdoid tumor syndrome (deletion/duplication analysis on SMARCB1 gene)
Neurofibromatosis types 1 and 2, Legius syndrome and schwannomatosis (NGS panel of 5 genes)