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Multiplex Gap-PCR for beta thalassemia deletions
Clinical Genetic Test
Help
offered by
Hemoglobinopathy Reference Laboratory
GTR Test Accession: Help GTR000561270.1
INHERITED DISEASEHEMATOLOGYENDOCRINOLOGY ... View more
Registered in GTR: 2018-07-17
View version history
Last annual review date for the lab: 2024-08-14 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (5): Help
Delta-0-thalassemia; Beta zero thalassemia; Thalassemia more...
Genes (2): Help
HBB (11p15.4); HBD (11p15.4)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex-GAP PCR
Target population: Help
This assay is intended for use as an aid in …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Hemoglobinopathy Reference Laboratory
View lab's website
Specimen Source: Help
  • Amniotic fluid
  • Buffy coat
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Isolated DNA
  • Peripheral (whole) blood
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
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Result interpretation
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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
Conditions Help
Total conditions: 5
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex-GAP PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Target population: Help
This assay is intended for use as an aid in the diagnosis of beta thalassemia large deletions: 1) 92.8kb Spanish (deltabeta) thalassemia 2) 619 bp deletion beta thalassemia 3) 45 kb Filipino deletion beta thalassemia 4) 1393 bp deletion beta thalassemia 5) Black Ggamma (Agamma-deltabeta) thalassemia 6) 14.4 kb Sicilian … View more
Recommended fields not provided:
Clinical validity, Clinical utility, 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
It is 100%
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
Category: FDA exercises enforcement discretion
Additional Information
Consumer resources:

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