my CGC
< Back to results
Reanalysis and interpretation of Disease Exome (realignment and reanalysis of variants)
Request Now



Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


- 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