my CGC
< Back to results
 
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) (deletion/duplication analysis of TPK1 gene)
TPK1
Request Now


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, Metabolic Diseases


CGC Reference

- 5404




Associated Tests


Pyruvate carboxylase deficiency (WES based NGS panel of 25 genes, including CNV analysis)