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Autism (WES based NGS panel of 156 genes, including CNV analysis)
ABCA7 , ADNP , ADSL , ALDH5A1, AMT, ANK2 , ANK3, ANKRD11, AP1S2, ARID1B , ASH1L , ASXL3 , AUTS2 , AVPR1A, BCKDK , BCL11A , BDNF, BRAF , C12orf57 , CACNA1C , CACNA1H, CACNA2D3 , CASK, CC2D1A , CDC42BPB , CDKL5 , CHD2 , CHD7 , CHD8 , CNTN4, CNTN6 , CNTNAP2
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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

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 5135




Associated Tests


Epileptic encephalopathy (WES based NGS panel of 137 genes, including CNV analysis)
Sudden death (NGS panel of 83 genes)
Mental retardation, X-linked (NGS panel for 89 genes)
Cardiomyopathy (hypertrophic, dilated , arrhythmogenic right ventricular dysplasia and left ventricular noncompaction) and changes in cardiac conduction (WES based NGS panel of 140 genes, including CNV analysis)
Hereditary ataxias (WES based NGS panel of 214 genes, including CNV analysis)