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Athena #714 LAMB2 DNA Sequencing Test
Test Code714
CPT Codes
81407(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: Nephrotic syndrome
Typical Presentation: Truncating mutations lead to Pierson syndrome with nephrotic syndrome, diffuse mesangial sclerosis, distinct eye anomalies, and mental retardation. Missense mutations are associated with variable symptoms ranging from isolated early onset nephrotic syndrome to intermediate phenotypes.
Disease(s) tested for: Nephrotic Syndrome
Detects mutations in the LAMB2 gene"
Typical Presentation: Truncating mutations lead to Pierson syndrome with nephrotic syndrome, diffuse mesangial sclerosis, distinct eye anomalies, and mental retardation. Missense mutations are associated with variable symptoms ranging from isolated early onset nephrotic syndrome to intermediate phenotypes.
Disease(s) tested for: Nephrotic Syndrome
Detects mutations in the LAMB2 gene"
