CYSTINOSIS
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000604030.1
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2023-01-23
Last annual review date for the lab: 2023-09-11 LinkOut
At a Glance
Diagnosis
Cystinosis
Genes (1): Help
CTNS (17p13.2)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Laboratorio de Genetica Clinica SL
View lab's website
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:
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 *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Test Comments: Help
CLINICAL EXOME SEQUENCING
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity for this assay is estimated to be >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
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.