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Bloom Syndrome, DNA analysis-13568

3/20/2023: This test order is currently unavailable. To order a referred alternate, place a MSO order for LabCorp (482370) GeneSeq PLUS

Test info

Test name:

Bloom Syndrome, DNA analysis

Test number:

13568

Excellian order number:

LAB13568

Abbreviation:

BLOOM

Alternate names:

2281del6ins7 Mutation
Jewish heritage test
Sister chromatid exchange

Useful for:

Identification of carrier and affected individuals for the 2281del6ins7 mutation associated with Bloom syndrome in the Ashkenazi Jewish population.

Specimen

Specimen type:

EDTA whole blood

Collection container:

Lavender (EDTA), 4mL

Volume:

7.0 mL

Minimum volume:

3.0 mL

Collection instructions:

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

Transport container:

Lavender (EDTA), 4mL

Alternate specimen type:

ACD whole blood - 7mL
Amniotic fluid - 10 mL
Chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing) - 20 mg

Alternate collection container:

Whole blood:

Yellow ACD (A or B)

Amniotic fluid/CVS:

Sterile vial

Alternate specimen volume:

Whole blood 7mL (minimum 3.0mL)
Amniotic fluid 10 mL (minimum 5mL)
Chorionic villus sample (CVS) 20 mg (minimum 10mg)

Alternate transport container:

Yellow ACD (A or B)

Amniotic fluid: Sterile vial

CVS: two confluent T-25 flasks

Required forms/information:

Molecular Medicare billing request

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

Refrigerated

Reason for rejection:

Frozen specimen
Hemolysis
quantity not sufficient for analysis (QNS)
Improper container

Performance

Performing lab:

LabCorp RTP (512145): R-LC

Days set up:

Twice per week, or as needed

TAT:

8 - 15 days
If cultured cells are needed, an additional 7 - 12 days may be required

Method:

Polymerase chain reaction (PCR), primer extension and flow-sorted bead

Clinical and Interpretive info

Reference ranges:

An interpretive report will be included

Clinical information:

Prenatal testing is available. Bloom syndrome (OMIM 210900) is a rare autosomal recessive disorder that is characterized by small stature, photo-sensitivity, chromosomal instability, immunodeficiency, and a predisposition to develop multiple cancers. In the Ashkenazi Jewish population, the carrier frequency is approximately 1 in 104 individuals.

Billing

Preauthorization:

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:

81209

Subject to medical necessity (Y/N):

Yes

LOINC code:

Result 51969-4

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

Tracking

Date created:

03/27/2019

Revised date:

01/02/2024

Review date:

01/02/2024