Stickler syndrome, type 2, AD

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GENE / VARIANT / LOCUS
COL11A1_MLPA
SPECIALIZATIONS
Dysmorphology
Dysmorphology
Ophthalmology
Ophthalmology
Otorhinolaryngology
Otorhinolaryngology
Pediatrics
Pediatrics
TAT (DAYS)
90 calendar days
OMIM CODE (GENE/LOCUS)
120280
OMIM CODE (FENOTYPE)
604841
RefSNP ID
ACCREDITATION
Yes
SAMPLE REQUIREMENTS
Sample type Volume/Concentration1 Container Transport temperature Sample viability (days/hours)2
Peripheral blood 1 ml K3/K2 EDTA - newborn Room temp. 5
Peripheral blood ≥ 3 ml K3/K2 EDTA 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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