GTR Test Accession:
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GTR000556525.1
Registered in GTR:
2017-08-12
View version history
GTR000556525.1,
registered in GTR:
2017-08-12
Last annual review date for the lab: 2024-09-30
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (1):
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beta Thalassemia
Genes (2):
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HBB (11p15.4);
LOC106099062 (11p15.4)
Methods (1):
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Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization
Target population: Help
Indian, Pakistan, Bangladesh
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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Beta-thalassemia common mutations study
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Bone marrow
- Cell culture
- Chorionic villi
- Cord blood
- Fetal blood
- Fibroblasts
- Fresh tissue
- Isolated DNA
- Peripheral (whole) blood
- Product of conception (POC)
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- In-State Patients
- Licensed Physician
- Out-of-State Patients
- Physician Assistant
- Public Health Mandate
Contact Policy:
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Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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Kindly contact us for a prior collection of any specimen or you can visit our website.
Order URL
Order URL
Test service:
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Genetic counseling
Result interpretation
Result interpretation
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 2
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Targeted variant analysis
PCR with allele specific hybridization
Applied Biosystem - 2720
Clinical Information
Test purpose:
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Diagnosis
Clinical utility:
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Target population:
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Indian, Pakistan, Bangladesh
View citations (1)
- Sheth JJ, Sheth FJ, Pandya P, Priya R, Davla S, Thakur C, Flavin V. Beta-thalassemia mutations in western India. Indian J Pediatr. 2008;75(6):567-70. doi:10.1007/s12098-008-0109-3. Epub 2008 Aug 31. PMID: 18759082.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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For interpreting variant as VUS we use 1000 Genome Database, Human Genome mutation database (HGMD), ExAC database, we also check minor/major allele frequency. Furthermore, we use various softwares to identify the pathogenicity of VUS.All VUS are reconfirmed by Sanger sequencing. All variants are submitted to clinvar.
For interpreting variant as VUS we use 1000 Genome Database, Human Genome mutation database (HGMD), ExAC database, we also check minor/major allele frequency. Furthermore, we use various softwares to identify the pathogenicity of VUS.All VUS are reconfirmed by Sanger sequencing. All variants are submitted to clinvar.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. The normal process is we reevaluate VUS data from time to time and whenever find some changes we generate new report, and dispatch the same to patient and also inform the referring physician. Usually it is not the person who is investigated at the lab need to recontact but lab … View more
Yes. The normal process is we reevaluate VUS data from time to time and whenever find some changes we generate new report, and dispatch the same to patient and also inform the referring physician. Usually it is not the person who is investigated at the lab need to recontact but lab … View more
Recommended fields not provided:
Clinical validity,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The allele specific hybridization and ARMS based mutation detection is greater than 99% sensitive for detecting common variants
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
Yes
Method used for proficiency testing: Help
Inter-Laboratory
VUS:
Software used to interpret novel variations
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SIFT, Polyphen, Mutation Taster etc.
Laboratory's policy on reporting novel variations Help
After confirming VUS by Sanger sequencing, we screen other family members for confirming its pathogenicity and dispatch report to patients and also communicate report to the referring doctors by special telephonic talk and email.
SIFT, Polyphen, Mutation Taster etc.
Laboratory's policy on reporting novel variations Help
After confirming VUS by Sanger sequencing, we screen other family members for confirming its pathogenicity and dispatch report to patients and also communicate report to the referring doctors by special telephonic talk and email.
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:
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Category:
Not Applicable
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
IMPORTANT NOTE:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.