NGS analysis - Familial hypercholesterolemia

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GENE / VARIANT / LOCUS
ABCG5, ABCG8, APOB, APOE, APTX, CYP27A1, CYP7A1, GPD1, LDLR, LDLRAP1, LIPA, LPL, LRP6, PCSK9
SPECIALIZATIONS
Metabolic diseases
Metabolic diseases
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 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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