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Megaloblastic anemia-1, Norwegian type (sequence analysis of AMN gene)
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Sanger sequencing

Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


- Rare diseases, Hematology, Neurology / Neuropediatrics

CGC Reference

- 3310

Associated Tests

Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)
Diseases of the posterior ocular segment (WES based NGS panel for 307 gene, including CNV analysis)
Retinal diseases (WES based NGS panel of 309 genes, including CNV analysis)