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Reanalysis and interpretation of Disease Exome (realignment and reanalysis of variants)
n.a.
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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)

- 30

Specialties

- Cardiology, Dermatology, Rare diseases, Endocrinology, Pharmacogenomics, Gastroenterology, Hematology, Nephrology, Neurology / Neuropediatrics, Ophthalmology, Oncology, Otorhinolaryngology, Pediatrics, Pulmonology/Pneumology, Reproductive Medicine, Metabolic Diseases, Dysmorphology


CGC Reference

- 5059




Associated Tests


Quimerism investigation after BMT
WES by CGC Genetics (whole exome sequencing, including CNV analysis)
WES-Trio by CGC Genetics (whole exome sequencing, including CNV analysis)
Detection by FISH of isochromosome 12p