NGS analysis - Primary ciliary dyskinesia

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GENE / VARIANT / LOCUS
ARMC4, CCDC39, CCDC40, CCDC65, CCDC103, CCDC114, CCDC151, CCNO, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH5, DNAH9, DNAH11, DNAI1, DNAI2, DNAL1, DRC1, FOXJ1, GAS2L2, LRRC6, LZTFL1, NME8, OFD1, RPGR, RSPH1, RSPH4A, RSPH9, SPAG1, SPEF2, ZMYND10
SPECIALIZATIONS
Pulmology/pneumology
Pulmology/pneumology
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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