Focal Segmental Glomerulosclerosis Panel
Congenital Nephrotic Syndrome; Congenital Finnish Nephosis
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
Special Instructions for Genome Diagnostics Samples
If sample shipment >48 hours, ship on ice.
The autosomal recessive (AR) form of FSGS is present when a child receives two copies of a defective NPHS2 gene, one from each parent. Any person with one copy of the defective NPHS2 gene is a carrier. Carriers do not have, and will not develop, FSGS. However, if two carriers wish to have children, there is a one in four chance (25%) that their baby will develop FSGS. There is a three in four chance (75%) that their baby will not have AR FSGS. The autosomal dominant (AD) form of FSGS is present when an individual has one copy of the defective TRPC6 or ACTN4 gene. Affected individuals have a 50% chance of transmitting the disorder to each child. There is a 50% chance that the affected individual’s offspring will not be affected with FSGS. Mutations in CD2AP have been reported showing both autosomal recessive and autosomal dominant inheritance patterns.
See related information sheet: Focal Segmental Glomerulosclerosis
Focal Segmental Glomerulosclerosis
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