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Kartagener syndrome (sequence analysis of DNAH5 gene)
DNAH5
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Methodology

NGS


Specimen Requirements


Descriptive Volume /
Concentration 1
Container Transport
temperature
Sample
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
1 When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2 Maximum shipping time to ensure sample quality

Turnaround Time (Days)

- 60

CPT Codes

- 81479

Specialties

- Rare diseases, Pediatrics, Pulmonology/Pneumology


CGC Reference

- 614




Associated Tests


Primary ciliary dyskinesia 3 (CILD3, sequence analysis of DNAH5 gene)
Primary ciliary dyskinesia 3 (CILD3, deletion/duplication analysis on DNAH5 gene)
Primary ciliary dyskinesia (NGS panel of 34 genes)
Pulmonary fibrosis, family (NGS panel of 71 genes)