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Spastic paraplegia 39 | Boucher-Neuhauser syndrome | Oliver-McFarlane syndrome | Laurence-Moon syndrome (deletion/duplication analysis on PNPLA6 gene)
PNPLA6
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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


CGC Reference

- 5067




Associated Tests


Spastic paraplegia type 39 (SPG39, sequence analysis of PNPLA6 gene)
Boucher-Neuhauser syndrome (sequence analysis of PNPLA6 gene)
Hereditary spastic paraplegia, AR and X-linked (NGS panel of 33 genes)