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Progeroid syndromes (NGS panel for 12 genes)
BANF1, BLM, CAV1, ERCC6, ERCC8, FBN1, KCNJ6, LMNA, POLD1, RECQL2, SPRTN, ZMPSTE24
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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)

- 60

CGC Reference

- 4632




Associated Tests


Lipodystrophies and progeroid syndromes (NGS panel of 25 genes)
Arthrogryposis (NGS panel for 49 genes)
Arthrogryposis (WES based NGS panel of 240 genes, including CNV analysis)
Colorectal cancer (WES based NGS panel of 30 genes, including CNV analysis)
Premature ovarian failure (NGS panel of 47 genes)