Achromatopsia, type 4

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GENE / VARIANT / LOCUS
GNAT2
SPECIALIZATIONS
Ophthalmology
Ophthalmology
Pediatrics
Pediatrics
METHODOLOGY
TAT (DAYS)
180 calendar days
OMIM CODE (GENE/LOCUS)
139340
OMIM CODE (FENOTYPE)
613856
RefSNP ID
ACCREDITATION
No
SAMPLE REQUIREMENTS
Sample type Volume/Concentration1 Container Transport temperature Sample viability (days/hours)2
DNA ≥ 100 µl [50 ng/µl] Eppendorf Safe-lock sterile tube Room temp. n/a
DNA ≥ 100 µl [50 ng/µl] Eppendorf Safe-lock sterile tube Room temp. n/a
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
Peripheral blood ≥ 3 ml K3/K2 EDTA 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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