Chromosome Analysis, Bone Marrow with Reflex to Genomic Microarray

Casandra

Casandra Test Code AR20988Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2007130CPT Codes 81277, 88237, 88264, 88299

Chromosome Analysis, Bone Marrow with Reflex to Genomic Microarray

Also known as: BM REFLEX

Clinical Use

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Use

This test is used for the diagnosis, prognosis, and monitoring of hematopoietic neoplasms such as acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), myelodysplastic syndromes, and chronic lymphocytic leukemia (CLL). Chromosome analysis provides a karyotype that detects chromosomal abnormalities, which can inform clinical management and treatment plans. If the initial karyotype result is normal or indicates no growth, reflex genomic microarray testing is performed to identify additional genomic alterations. These tests together provide a comprehensive genomic profile that aids in clinical decision-making and risk stratification.

Special Instructions

Patient samples must include clinical indication or reason for testing along with specimen type. It is important to indicate whether the patient has received a bone marrow transplant and specify the sex of the donor if applicable. For samples involved in external studies, such as COG studies, additional charges may apply based on the extent of work required.

Limitations

The limitations of this test include potential issues such as the inability to provide structural or positional information related to genomic imbalance. Additional testing using methods like FISH may be recommended for more detailed analyses. The test may not detect certain alterations, such as CNVs below the platform's resolution limit, sequence-level variants, low-level mosaicism, and balanced chromosomal rearrangements. These limitations can affect the ability to fully characterize some genetic conditions.

Test Details