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Genetic Test of single known genetic variant
Clinical Genetic Test
Help
offered by
National Taiwan University Hospital A1 Center
View lab's test page
LinkOut
GTR Test Accession: Help GTR000558013.2
INHERITED DISEASECANCERINHERITED DISEASE SUSCEPTIBILITY ... 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 (7): Help
Hereditary breast ovarian cancer syndrome; Autosomal dominant polycystic kidney disease; Medullary thyroid carcinoma more...
Genes (10): Help
BRCA1 (17q21.31); BRCA2 (13q13.1); GNAS (20q13.32); MEN1 (11q13.1); PKD1 (16p13.3) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Sanger sequencing
Target population: Help
Patients include: Familial Breast Cancer, Familial Ovarian Cancer, Tuberous Sclerosis …
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
000X0224
Lab contact: Help
Pei Lung Chen, PhD, MD, Lab Director
genetics.core.ntuh@gmail.com
+(886)-02-23123456 ext71910
Po Han Lin, PhD, MD, Lab Associate Director
genetics.core.ntuh@gmail.com
+(886)-02-23123456 ext71910
TZE WAH KAO, 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: 7
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 10
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
Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Target population: Help
Patients include: Familial Breast Cancer, Familial Ovarian Cancer, Tuberous Sclerosis Complex, Autosomal Dominant Polycystic Kidney Disease, Medullary Thyroid Cancer, Multiple Endocrine Neoplasia,Type1, Multiple Endocrine Neoplasia,Type2, and Pseudohypoparathyroidism.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
ACMG guideline

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Test Procedure: 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
Depends on each disease/symptom. (0-100%)
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:
Test Confirmation, 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.