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Athena #711 ACTN4 DNA Sequencing Test
Test Code711
CPT Codes
81406(1)
Preferred Specimen
whole Blood 10 mL
Minimum Volume
(pediatric minimum: 2mL)
Instructions
ship same day. Must arrive at Athena on a weekday
Transport Container
lav(EDTA)
Transport Temperature
Room Temp
Specimen Stability
Refrigerated
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
freezing
Methodology
DNA Sequencing, Polymerase Chain Reaction (PCR)
Report Available
2-3 weeks
Reference Range
No sequence variation detected
Clinical Significance
"Type of Disorder: Nephrotic syndrome
Typical Presentation: Sequence variations cause an autosomal dominant form of kidney disease characterized by mild to moderate proteinuria during adolescence or later, renal insufficiency with slow progression to ESRD, and a focal and segmental glomerulosclerotic pattern of tissue injury.
Disease(s) tested for: Nephrotic Syndrome
Detects mutations in the ACTN4 gene"
Typical Presentation: Sequence variations cause an autosomal dominant form of kidney disease characterized by mild to moderate proteinuria during adolescence or later, renal insufficiency with slow progression to ESRD, and a focal and segmental glomerulosclerotic pattern of tissue injury.
Disease(s) tested for: Nephrotic Syndrome
Detects mutations in the ACTN4 gene"
