Alpha Thalassemia Carrier Screening
GTR Test Accession: Help GTR000591961.1
INHERITED DISEASEDYSMORPHOLOGYHEMATOLOGY ... View more
Last updated in GTR: 2020-11-20
Last annual review date for the lab: 2023-12-22 LinkOut
At a Glance
Diagnosis
alpha Thalassemia; Non-immune hydrops fetalis
Genes (2): Help
HBA1 (16p13.3), HBA2 (16p13.3)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS); Trinucleotide repeat by PCR or Southern Blot
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
HNL Genomics Connective Tissue Gene Tests
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
Test Order Code: Help
6005
CPT codes: Help
**AMA CPT codes notice
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
Please use the requisition form and easy-to-use submission instructions available on the CTGT web site
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 6005
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
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:
Conditions Help
Total conditions: 2
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: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity and Specificity >99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

PT Provider: Help
Other

Description of PT method: Help
Internal proficiency testing is conducted biannually in compliance with all CAP regulations. Inter-laboratory proficiency testing is performed for some tests.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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