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Huntington disease-like 1 (HDL1, detection of expansion on PRNP gene)
PRNP
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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
Fetal DNA ≥ 20 µL [25 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
Amniotic fluid ≥ 5 mL Sterile tube Room temp. 4
Chorionic villus sampling (CVS) ≥ 30 mg Sterile tube + transport medium Room temp. 4
Cell culture 2 x T25 confluent Sterile tube + transport medium Room temp. 2
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)

- 30

CPT Codes

- 81404

Specialties

- Rare diseases, Neurology / Neuropediatrics


CGC Reference

- 1465




Associated Tests


Creutzfeldt-Jakob disease (sequence analysis of PRNP gene)
Gerstmann-Straussler disease (sequence analysis of PRNP gene)
Insomnia, fatal familial (sequence analysis of PRNP gene)
Hereditary chorea (WES based NGS panel for 14 genes)
Frontotemporal dementia (NGS panel of 20 genes)