HbE trait
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000562181.3
ENDOCRINOLOGYINHERITED DISEASEHEMATOLOGY ... View more
Last updated in GTR: 2021-10-25
Last annual review date for the lab: 2023-10-30 LinkOut
At a Glance
Diagnosis
beta Thalassemia
Genes (1): Help
HBB (11p15.4)
Molecular Genetics - Targeted variant analysis: RFLP
West Bengal, India
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
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 …
View more
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:
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:
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:
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.