Smith-Lemli-Opitz syndrome

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GENE / VARIANT / LOCUS
DHCR7_MLPA
SPECIALIZATIONS
Dysmorphology
Dysmorphology
Neurology / neuropediatrics
Neurology / neuropediatrics
Pediatrics
Pediatrics
TAT (DAYS)
90 calendar days
OMIM CODE (GENE/LOCUS)
602858
OMIM CODE (FENOTYPE)
270400
RefSNP ID
ACCREDITATION
Yes
SAMPLE REQUIREMENTS
Sample type Volume/Concentration1 Container Transport temperature Sample viability (days/hours)2
Amniotic fluid ≥ 10 ml Sterile tube Room temp. 4
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
Amniotic fluid ≥ 10 ml Sterile tube Room temp. 4

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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