Classic view of this page
Steroid-Resistant Nephrotic Syndrome (NPHS2 gene)
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000568259.3
INHERITED DISEASEIDIOPATHICSYNDROMIC DISEASE ... View more
Last updated in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2024-07-31 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Familial idiopathic steroid-resistant nephrotic syndrome
Genes (1): Help
NPHS2 (1q25.2)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Pathogenic variants in NPHS2 gene, which encodes podocin, can cause …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
NPHS2
Specimen Source: Help
  • Buccal swab
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2500, 2501, 2502
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
Pathogenic variants in NPHS2 gene, which encodes podocin, can cause a recessive form of SRNS. More than 120 variants have been reported in the NPHS2 gene and these occur in 45-55% of familial and 8-20% of sporadic SRNS cases in childhood. In genetics of juvenile or adult-onset NS the p.Arg229Gln … View more
View citations (1)
  • Nourbakhsh N, Mak RH. Steroid-resistant nephrotic syndrome: past and current perspectives. Pediatric Health Med Ther. 2017;8:29-37. doi:10.2147/PHMT.S100803. Epub 2017 Apr 11. PMID: 29388620.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Nourbakhsh N, Mak RH. Steroid-resistant nephrotic syndrome: past and current perspectives. Pediatric Health Med Ther. 2017;8:29-37. doi:10.2147/PHMT.S100803. Epub 2017 Apr 11. PMID: 29388620.

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
ACMG-AMP guidelines for the interpretation of sequence variants, 2015 (PMID: 25741868).

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For validation, a family whose child had nephrotic syndrome was studied. The patient was compound heterozygous for two variants (p.Ala284Val and p. Arg229Gln). The parents of this patient were carriers for the variants detected. Sanger sequencing analysis approaches an analytical sensitivity of almost 100%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.