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Focal Segmental Glomerulosclerosis Panel

Alternate test name

Congenital Nephrotic Syndrome; Congenital Finnish Nephosis

Gene name / Alternate gene name
  • ACTN4
  • CD2AP
  • NPHS1
  • NPHS2
  • TRPC6
Actinin alpha4, CD2-associated protein, nephrin, nephrosis 2 idiopathis steroid-resistant, transient receptor potential cation channel subfamily C member 6
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Expected turn-around time
Prenatal samples: 2 weeks Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; gDNA.

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

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

Disease condition

Focal Segmental Glomerulosclerosis

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