Urine for oligosaccharide by TLC
GTR Test Accession: Help GTR000556583.1
INHERITED DISEASEMETABOLIC DISEASEDYSMORPHOLOGY ... View more
Registered in GTR: 2017-08-16
Last annual review date for the lab: 2024-09-30 LinkOut
At a Glance
Screening
Deficiency of alpha-mannosidase; Fucosidosis; Salla disease
Oligosaccharide
Biochemical Genetics - Analyte: Thin layer chromatography
Not provided
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
Urine for oligosaccharide by TLC
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Physician
  • Out-of-State Patients
  • Physician Assistant
  • Public Health Mandate
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Kindly contact us for a prior collection of any specimen or you can visit our website.
Order URL
Test service: Help
Genetic counseling
Result interpretation
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Thin layer chromatography
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Clinical utility: Help
Establish or confirm diagnosis

Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test is greater than 98% sensitive and specific
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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