Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000591489.1
Last updated in GTR: 2020-08-19
Last annual review date for the lab: 2020-08-19 Past due LinkOut
At a Glance
Nephropathic cystinosis; Cystinosis; Juvenile nephropathic cystinosis; ...
Genes (1): Help
CTNS (17p13.2)
Molecular Genetics - Sequence analysis of select exons: PCR
Suspected to Cystinosis
Not provided
Not provided
Ordering Information
Offered by: Help
IUMS Hospital Medical Genetics Lab
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Lab contact: Help
Babak Behnam, PhD, MD, Lab Director
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 development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of select exons
Qiagen QIAcube
Clinical Information
Test purpose: Help
Target population: Help
Suspected to Cystinosis
View citations (1)
  • Ghazi F, Hosseini R, Akouchekian M, Teimourian S, Ataei Kachoei Z, Otukesh H, Gahl WA, Behnam B. CTNS molecular genetics profile in a Persian nephropathic cystinosis population. Nefrologia. 2017;37(3):301-310. doi:10.1016/j.nefro.2016.11.024. Epub 2017 Feb 24. PMID: 28238446.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Updated ACMG Guideline

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
CTNS gene test provides the likelihood (%)of clinical outcome for tested individuals, and it is primarily determined by the quality of clinical features used to select affected individuals suggested for genetic testing. The likelihood of clinical outcome is affected by the presence of the gene mutation itself in a consanguineous … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help

PT Provider: Help
Iranian Scociety of Medical Genetics
Software used to interpret novel variations Help
Mutation Taster

Laboratory's policy on reporting novel variations Help
Submission to ClinVar
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
NYS CLEP Approval: Help
Status: Exempt
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.