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Paediatric Laboratory Medicine

Focal Segmental Glomerulosclerosis Panel: Sequencing

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

Test Name

Focal Segmental Glomerulosclerosis Panel: Sequencing

Alternate Name/ Synonym

  • Congenital Nephrotic syndrome
  • Congenital Finnish Nephrosis

Gene Name

  • ACTN4
  • CD2AP
  • NPHS1
  • NPHS2
  • TRPC6

Test Code

FSGS

Division

Molecular Genetics

Method

Sequencing

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)

Protein

Actinin alpha4, CD2-associated protein, nephrin, nephrosis 2 idiopathis steroid-resistant, transient receptor potential cation channel subfamily C member 6

Disease/Condition

Focal Segmental Glomerulosclerosis

Specimen Type

Blood; gDNA.

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

Minimum Specimen Requirements

5-10 mL EDTA or ACD 0.5 mL EDTA (neonate); minimum 10 ug in 100 uL low TE (pH8.0)

Storage/Transportation

Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes

81479

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Interpretation

Interpretation is provided in report