Congenital disorder of glycosylation, type II d (B4GALT1)
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000552119.3
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2021-11-24
Last annual review date for the lab: 2023-10-12 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
B4GALT1-congenital disorder of glycosylation
Genes (1): Help
B4GALT1 (9p21.1)
Biochemical Genetics - Analyte: Metabolite levels; ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Amsterdam UMC, Location AMC
View lab's website
Specimen Source: Help
  • Amniocytes
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fibroblasts
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
Test Order Code: Help
Congenital disorder of glycosylation, type II d (B4GALT1)
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
Information and request forms can be found at the website.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Sequence Analysis
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
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: 2
Method Category Help
Test method Help
Instrument *
Analyte
Metabolite levels
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
PCR-based sequencing detects 95% of the reported mutations in the B4GALT1 gene. The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.
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

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