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HbE trait
Clinical Genetic Test
Help
offered by
Genetics Service Unit
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GTR Test Accession: Help GTR000562181.3
INHERITED DISEASEENDOCRINOLOGYHEMATOLOGY ... View more
Last updated in GTR: 2021-10-25
View version history
Last annual review date for the lab: 2023-10-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
beta Thalassemia
Genes (1): Help
HBB (11p15.4)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: RFLP
Target population: Help
West Bengal, India
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Genetics Service Unit
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2
Lab contact: Help
Paramita Bhattacharya, Staff
paramita_b2k@yahoo.co.in
+91-8961882229
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
For DNA based tests, 2 ml blood should be collected in a tube containing EDTA. The tube should be labelled (patient's name, referring Government hospital registration number and date of collection). The EDTA tube should be sent (within 4 hours of blood collection) at room temperature or should be stored …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
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
Targeted variant analysis
RFLP
Veriti 96 well Thermal Cycler
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • doi: 10.1101/cshperspect.a011734 PMCID: PMC3405827

Target population: Help
West Bengal, India
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Not applicable

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Not applicable

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. Not applicable
Recommended fields not provided:
Clinical validity, 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
DNA Isolation. PCR amplification. Restriction digestion Gel Electrophoresis Gel Documentation and interpretation
Test Platform:
None/not applicable
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% sensitive
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Not applicable

Laboratory's policy on reporting novel variations Help
Not applicable
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.