GALT S135L
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000567158.1
INHERITED DISEASEOPHTHALMOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2019-04-17
Last annual review date for the lab: 2021-04-20 Past due LinkOut
At a Glance
Diagnosis
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; Galactosemia
Genes (1): Help
GALT (9p13.3)
Molecular Genetics - Targeted variant analysis: RFLP
Not provided
Not provided
Establish or confirm diagnosis; Where indicated clinically or by GALT enzyme activity results i
Ordering Information
Offered by: Help
Inherited Metabolic Disease group
Test short name: Help
GALT S135L
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Buffy coat
  • Cell culture
  • Fibroblasts
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Skin
  • View specimen requirements
Who can order: Help
  • Licensed Physician
Test Order Code: Help
GALT p.S135L mutation
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.
How to Order: Help
Contact the laboratory directly for specific arrangements.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Test strategy: Help
Targeted screening for the GALT:p.S135L variant only
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: 2
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 *
Targeted variant analysis
RFLP
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis

Where indicated clinically or by GALT enzyme activity results i

Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Mutation identified in >50 biochemically confirmed cases
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment

PT Provider: Help
Other
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.