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CTNS
Clinical Genetic Test
Help
offered by
IUMS Hospital Medical Genetics Lab
GTR Test Accession: Help GTR000591489.1
NYS CLEP
INHERITED DISEASEMETABOLIC DISEASEOPHTHALMOLOGY ... View more
Last updated in GTR: 2020-08-19
View version history
Last annual review date for the lab: 2020-08-19 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (4): Help
Nephropathic cystinosis; Cystinosis; Juvenile nephropathic cystinosis; ...
Genes (1): Help
CTNS (17p13.2)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: PCR
Target population: Help
Suspected to Cystinosis
Clinical validity: Help
Not provided
Clinical utility: Help
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
b_behnam@yahoo.com
407-920-4420
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
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test Order Code, How to Order, Test strategy
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
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of select exons
PCR
Qiagen QIAcube
Clinical Information
Test purpose: Help
Diagnosis
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
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
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
Yes

Method used for proficiency testing: Help
Intra-Laboratory

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

Laboratory's policy on reporting novel variations Help
Submission to ClinVar
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
NYS CLEP Approval: Help
Number:
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.