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Bernard-Soulier syndrome (NGS panel of 19 genes)
ACTN1, ANO6, CD36, FLI1, GFI1B, GP1BA, GP1BB, GP6, GP9, ITGA2B, ITGB3, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, TBXA2R
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Methodology

NGS


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)

- 45

Specialties

- Rare diseases, Hematology


CGC Reference

- 5366




Associated Tests


Diseases of platelet function (WES based NGS panel of 37 genes, including CNV analysis)
Hemopathies (NGS panel of 34 genes)
Hereditary coagulation diseases (WES based NGS panel of 103 genes, including CNV analysis)
Thrombocytopenia and inherited bone marrow failure (WES based NGS panel of 109 genes, including CNV analysis)