< Back to results
Coffin-Siris syndrome (sequence analysis of SMARCA4 gene)
Request Now


Sanger sequencing

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)

- 60

CPT Codes

- 81479


- Rare diseases, Neurology / Neuropediatrics, Pediatrics

CGC Reference

- 1454

Associated Tests

Rhabdoid tumor syndrome (deletion/duplication analysis on SMARCA4 gene)
Rhabdoid tumor syndrome (sequence analysis of SMARCA4 gene)
Congenital anomalies of the kidney and urinary tract (CAKUT) (WES based NGS panel of 66 genes, including CNV analysis)
Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)
Coffin-Siris syndrome and differential diagnosis (WES based NGS panel of 19 genes, including CNV analysis)