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Prenatal diagnosis for Beta thalassemia (known mutation) including maternal cell … see more Prenatal diagnosis for Beta thalassemia (known mutation) including maternal cell contamination  see less
Clinical Genetic Test
Help
offered by
Diagnostics Division
GTR Test Accession: Help GTR000596318.1
INHERITED DISEASEHEMATOLOGYENDOCRINOLOGY ... View more
Registered in GTR: 2021-11-02
View version history
Last annual review date for the lab: 2021-11-11 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (6): Help
Beta thalassemia intermedia; Beta-thalassemia major; Thalassemia more...
Genes (1): Help
HBB (11p15.4)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Diagnostics Division
View lab's website
Test short name: Help
prenatal Thalassemia
Manufacturer's name: Help
FDHEM3
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Plasma
  • Skin
  • Urine
Who can order: Help
  • Health Care Provider
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
Order URL
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 6
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 *
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Detection of beta thalassemia (HBB gene) mutation by Sanger sequencing. PCR mix for X number of samples (if X is less or equal to 20 make mix for X+1 and if more than X+2). Final volume 25.0 μL. Three separate tubes for NTC and positive and negative controls to be … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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

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