Hereditary Hemolytic Anemia Panel Sequencing

Casandra

Casandra Test Code AR22793Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2012052CPT Codes 81249, 81404, 81405, 81479

Hereditary Hemolytic Anemia Panel Sequencing

Also known as: HHA SEQ

Clinical Use

Order Test

Use

The Hereditary Hemolytic Anemia Panel Sequencing is used to determine etiology, elicit inheritance patterns, and assess recurrence risk in individuals with unexplained hemolytic anemia, unexplained hyperbilirubinemia (neonates), and a family history of unexplained hemolytic anemia. Hereditary Hemolytic Anemia (HHA) comprises a group of disorders characterized by premature red blood cell (RBC) destruction and anemia caused by intrinsic RBC defects, including RBC membrane defects, RBC enzymopathies, and hemoglobinopathies.

Special Instructions

Submit with order: Hereditary Hemolytic Anemia Cascade Kit Patient History Form, Informed Consent for Genetic Testing (Required for NY patients). Recent CBC result is required. Counseling and informed consent are recommended for genetic testing.

Limitations

A negative result does not exclude a heritable form of hemolytic anemia. This test only detects variants within the coding regions and intron-exon boundaries of the targeted genes. Alpha- and beta-globin clusters' genes are not analyzed. Regulatory region and deep intronic variants are not identified. Deletions/duplications/insertions of any size may not be detected. There may be reduced sensitivity due to the presence of pseudogenes, repetitive, or homologous regions. The test may not detect low-level somatic variants. Interpretation may be impacted by allogeneic stem cell transplantation or recent blood transfusion. Non-coding transcripts were not analyzed.

Test Details