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Argininosuccinate lyase deficiency (deletion/duplication on ASL gene)
ASL
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Methodology

Real-time quantitative PCR (RT-qPCR)


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

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics, Metabolic Diseases


CGC Reference

- 4905




Associated Tests


Citrullinemia (NGS panel of 7 genes)
Argininosuccinate lyase deficiency (sequence analysis of ASL gene)
Autoimmune lymphoproliferative syndrome (sequence analysis of FASLG gene)
Autoimmune lymphoproliferative syndrome (deletion/duplication analysis of FASLG)
Lymphoproliferative syndrome and differential diagnosis (WES based NGS panel of 34 genes, including CNV analysis)