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


Methodology

Sanger sequencing


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

CPT Codes

- 81479

Specialties

- 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)