Beta-thalassemia: HBB (Full gene sequencing)

Alphabetical Test listing

Beta-thalassemia: HBB (Full gene sequencing)-994

Test name:

Test number:

994

Excellian order number:

LAB994

Abbreviation:

MSO

Alternate names:

β-Thalassemia

Useful for:

Confirm a clinical diagnosis of β-thalassemia
Detect carriers
Help to establish a prognosis

Limitations:

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 type:

EDTA whole blood

Collection container:

Lavender (EDTA), 10mL

Volume:

7 mL

Minimum volume:

3 mL

Collection instructions:

Immediately following collection, mix sample thoroughly by gentle inverting 8 - 10 times, to prevent clotting

Transport container:

Lavender (EDTA), 10mL

Required forms/information:

Test orders must include an attestation that the provider has the patient's Informed consent for genetic testing
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form along with the sample.
- Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
- All information requested is required in order for your request to be completed

Transport and stability:

Ambient

Reason for rejection:

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

Performing lab:

LabCorp RTP (252823): R-NX

Days set up:

As needed, upon receipt

TAT:

16 - 28 days

Method:

DNA sequencing

Reference ranges:

Normal equals reference sequence or variants that are known or predicted to be benign.

Abnormal equals all other variants.

Clinical information:

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.

Preauthorization:

Pre-authorization This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.

CPT codes:

81364

Subject to medical necessity (Y/N):

Yes

LOINC code:

Result 21689-5

Other billing information:

Medical necessity

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.

Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
All information requested is required in order for your request to be completed

Molecular Medicare billing request

Date created:

07/03/2019

Revised date:

01/04/2022

Review date:

12/27/2023