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GALT Gene Sequencing Assay
Clinical Genetic Test
Help
offered by
Clinical Biochemical Genetics Diagnostic Laboratory
GTR Test Accession: Help GTR000571063.1
CAP
Registered in GTR: 2020-02-14
View version history
Last annual review date for the lab: 2024-10-10 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Classical galactosemia, homozygous Duarte-type
Genes (1): Help
GALT (9p13.3)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Uni-directional Sanger sequencing
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Clinical Biochemical Genetics Diagnostic Laboratory
View lab's website
Specimen Source: Help
  • Buccal swab
  • Peripheral (whole) blood
  • Plasma
  • Saliva
  • Serum
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
3002
Lab contact: Help
Jingyu Huang, PhD, Lab Associate Director
jxh951@med.miami.edu
305-243-4856
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
Order a test:
For specimen requirements and shipping conditions, please check the information page of the desired test(s) located at http://medgen.med.miami.edu/bgdl/test-menu. All specimen tubes should be labeled with the patient’s name and date of birth.

Please fill out the Biochem Lab Requisition Online Form completely (http://medgen.med.miami.edu/bgdl/test-order-form). An incomplete form …
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Order URL
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:
Test strategy, Test development
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 *
Sequence analysis of select exons
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, 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
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity: Help
1. CLSI 2008, Document GP2-A4; Vol. 16, No. 15, Clinical Laboratory Technical Procedure Manuals- Fourth Edition. 2. CLSI, Document GP2-A3; Vol. 4, No. 2, Clinical Laboratory Procedure Manuals. 3. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977; 74: 5463-7. … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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
Not provided
Additional Information
Practice guidelines:
Consumer resources:

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.