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Next Generation Sequencing for Jaundice Associated Genes Variation Test
Clinical Genetic Test
Help
offered by
National Taiwan University Hospital A1 Center
View lab's test page
LinkOut
GTR Test Accession: Help GTR000558423.2
INHERITED DISEASEDIGESTIVE SYSTEMMETABOLIC DISEASE ... View more
Last updated in GTR: 2021-07-28
View version history
Last annual review date for the lab: 2024-05-22 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (4): Help
Arteriohepatic dysplasia; Inborn disorder of bile acid synthesis; Jaundice more...
Genes (73): Help
ABCB1 (7q21.12); ABCB11 (2q31.1); ABCB4 (7q21.12); ABCC2 (10q24.2); ABCC3 (17q21.33) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients show clear symptoms of Jaundice or family member of …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
National Taiwan University Hospital A1 Center
View lab's test page
Specimen Source: Help
  • Buffy coat
  • Peripheral (whole) blood
Who can order: Help
  • Licensed Physician
Test Order Code: Help
000X0237
View other test codes
Lab contact: Help
Huey-Ling Chen, PhD, MD,
How to Order: Help
Fill out Sample testing request and consent form
Leave contact information number and email address (required)
Sample with the forms send in refrigerating condition and send it to NTUH lab number 19010
Order URL
Test service: Help
Custom Sequence Analysis
Test additional service: Help
Custom mutation-specific/Carrier testing
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 73
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 the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Target population: Help
Patients show clear symptoms of Jaundice or family member of a Jaundice patient
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
ACMG guideline

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No. NT$1500/person

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Test Procedure: Help
Test sample with sample preparation and probe capture of associated genes entire coding region, and then perform NGS on Illumina MiSeq
Test Confirmation: Help
PCR of single variant with Sanger sequencing
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
Disease causing variant is identified around 21.4%-83.3% on clinical diagnosed Jaundice patients, with sanger confirmation of 100% consistency.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
SIFT, PolyPhen-2
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.