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Hydrocephalus, X-linked (deletion/duplication analysis of L1CAM gene)
L1CAM
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Methodology

Deletion/duplication analysis by MLPA


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

Specialties

- Rare diseases, Neurology / Neuropediatrics, Obstetrics / Gynecology /PND


CGC Reference

- 4355




Associated Tests


Hydrocephalus, X-linked (sequence analysis of L1CAM gene)
Spastic paraplegia type 1 (MASA and CRASH syndrome, sequence analysis of L1CAM gene)
Spastic paraplegia types 1 and 2, X-linked (MASA, CRASH and Pelizaeus-Merbancher syndromes, sequence analysis of L1CAM and PLP1 genes)
Hereditary spastic paraplegia, AR and X-linked (NGS panel of 33 genes)