Beta-thalassemia: HBB (Full gene sequencing)-994
Test info
- Confirm a clinical diagnosis of β-thalassemia
- Detect carriers
- Help to establish a prognosis
This method does not reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements or deep intronic variants. It may be affected by allele-dropout, may not allow determination of the exact numbers of T/A or microsatellite repeats and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
Specimen
Immediately following collection, mix sample thoroughly by gentle inverting 8 - 10 times, to prevent clotting
Lavender (EDTA), 10mL
- Test orders must include an attestation that the provider has the patient's Informed consent for genetic testing
Molecular Medicare billing request
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.
Ambient
- Container broken or leaking
- Container not labeled or label not legible
- Use of improper anticoagulant
- Frozen specimen
- Hemolysis
- Quantity not sufficient for analysis
- Improper container
Performance
DNA sequencing
Clinical and Interpretive info
Normal equals reference sequence or variants that are known or predicted to be benign.
Abnormal equals all other variants.
This test covers all coding nucleotides of gene HBB, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR.
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
Billing
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.