NGS analysis - Holoprosencephaly

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GENE / VARIANT / LOCUS
CDON, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
SPECIALIZATIONS
Neurology / neuropediatrics
Neurology / neuropediatrics
METHODOLOGY
TAT (DAYS)
365 calendar days
OMIM CODE (GENE/LOCUS)
OMIM CODE (FENOTYPE)
RefSNP ID
ACCREDITATION
No
SAMPLE REQUIREMENTS
Sample type Volume/Concentration1 Container Transport temperature Sample viability (days/hours)2
Peripheral blood ≥ 3 ml K3/K2 EDTA Room temp. 5
Peripheral blood 1 ml K3/K2 EDTA - newborn Room temp. 5
Peripheral blood ≥ 3 ml K3/K2 EDTA Room temp. 5
Peripheral blood 1 ml K3/K2 EDTA - newborn Room temp. 5

1 If it is not possible to collect the minimum volume for the test, please contact Unilabs Genetics

2 Maximum shipping time to ensure sample quality

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