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Axenfeld-Rieger syndrome (sequence analysis of FOXC1 gene)
FOXC1
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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, Ophthalmology, Pediatrics


CGC Reference

- 1805




Associated Tests


Peters anomaly (sequence analysis of FOXC1 gene)
Axenfeld-Rieger syndrome (deletion/duplication analysis on PITX2 and FOXC1 genes)
Congenital anomalies of the kidney and urinary tract (CAKUT) (WES based NGS panel of 66 genes, including CNV analysis)
Familial cerebral small vessel disease (NGS panel of 15 genes)
Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)