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Athena #712 TRPC6 DNA Sequencing Test
Test Code712
CPT Codes
81406(1)
Preferred Specimen
whole Blood
Minimum Volume
10 mL (pediatric minimum: 2 mL)
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: FSGS
Typical Presentation: Mutations lead to an autosomal dominant form of hereditary focal segmental glomerulosclerosis characterized by high grade proteinuria by the third or fourth decade of life and ESRD within 10 yrs in 60% of affected individuals.
Disease(s) tested for: Focal segmental glomerulosclerosis Detects mutations in the TRPC6 gene
"
Typical Presentation: Mutations lead to an autosomal dominant form of hereditary focal segmental glomerulosclerosis characterized by high grade proteinuria by the third or fourth decade of life and ESRD within 10 yrs in 60% of affected individuals.
Disease(s) tested for: Focal segmental glomerulosclerosis Detects mutations in the TRPC6 gene
"
