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Maple syrup urine disease (c.117del, p.Arg40Glyfs*23 mutation on BCKDHA gene)
c.117del, p.Arg40Glyfs*23 mutation on BCKDHA gene
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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, Gastroenterology, Neurology / Neuropediatrics, Pediatrics, Metabolic Diseases


CGC Reference

- 3536