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Comprehensive Chromosomal Profiling by Shallow Whole Genome Sequencing (sWGS), Blood & Bone Marrow

Order Code
1725334
CPT
81479
Test Details
Synonyms

Comprehensive Chromosomal Profiling by sWGS

TAT

7 days

Methodology

sWGS

Performing Location

Accredited NRL Laboratory

Testing Frequency

Twice a week

Test Overview

Shallow Whole Genome Sequencing (sWGS) enables genome-wide detection of chromosomal gains and losses from uncultured bone marrow samples. This approach can detect whole-chromosome aneuploidies (e.g., monosomies, trisomies) as well as clinically relevant deletions and gains/amplifications, including: 1p, 1q, del(5q), del(7q), trisomy 8, del(20q), del(11q), del(13q), and del(17p) involving the TP53 locus. This comprehensive assay eliminates the need for both karyotyping and FISH testing. Test Limitations: sWGS cannot detect balanced chromosomal rearrangements (e.g., translocations/gene fusions, inversions) and cannot reliably identify microdeletions or microduplications smaller than ~10 Mb.

Specimen Type

Bone Marrow aspirate or Whole blood (well-mixed to prevent clotting)

Volume

Bone marrow 2 to 3 mL, Wole blood 6 mL

Specimen Container

Sodium or Lithium heparin (green top) tube

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Room temperature 48 hours
Order Code
1725334
CPT
81479
Test Details
Synonyms

Comprehensive Chromosomal Profiling by sWGS

TAT

7 days

Methodology

sWGS

Performing Location

Accredited NRL Laboratory

Testing Frequency

Twice a week

Test Overview

Shallow Whole Genome Sequencing (sWGS) enables genome-wide detection of chromosomal gains and losses from uncultured bone marrow samples. This approach can detect whole-chromosome aneuploidies (e.g., monosomies, trisomies) as well as clinically relevant deletions and gains/amplifications, including: 1p, 1q, del(5q), del(7q), trisomy 8, del(20q), del(11q), del(13q), and del(17p) involving the TP53 locus. This comprehensive assay eliminates the need for both karyotyping and FISH testing. Test Limitations: sWGS cannot detect balanced chromosomal rearrangements (e.g., translocations/gene fusions, inversions) and cannot reliably identify microdeletions or microduplications smaller than ~10 Mb.

Specimen Type

Bone Marrow aspirate or Whole blood (well-mixed to prevent clotting)

Volume

Bone marrow 2 to 3 mL, Wole blood 6 mL

Specimen Container

Sodium or Lithium heparin (green top) tube

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Room temperature 48 hours