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Ashkenazi panel (NGS panel of 26 genes)
ABCC8, ASPA, BCKDHB, BLM, BRCA1, BRCA2, CFTR, CLRN1, DLD, FANCC , G6PC, GBA, HEXA, IKBKAP, MCOLN1, NEB, PCDH15, SMPD1, PKHD1, TMEM216, MPL, CPT2,PMM2, FAH, FKTN , ATP7B
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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, Ophthalmology, Otorhinolaryngology, Pediatrics, Pulmonology/Pneumology, Metabolic Diseases


CGC Reference

- 4835




Associated Tests


Genetic carrier test (NGS panel of 101 genes)
Premium genetic test of carriers, woman
Premium genetic test of carriers, man
OncoRisk Expanded (NGS panel for 89 genes, including CNV analysis)
Breast and ovary cancer (NGS panel for 26 genes, including CNV analysis)