Test Overview
Test Methodology

Next-Generation Sequencing

Test Usage

This panel detects most known genetic causes of HLH: familial hemophagocytic
lymphohistiocytosis (PRF1, UNC13-D, STX11, STXBP2), X- linked lymphoproliferative (XLP) syndromes 1 and 2 (SH2D1A and XIAP), ITK deficiency (ITK), HermanskyPudlak syndrome types 2 and 9 (AP3B1 and BLOC1S6), Chediak-Higashi syndrome (LYST), CD27 deficiency (CD27), XMEN syndrome and lysinuric protein intolerance (SLC7A7). Mutations in MAGT1 have not been associated with HLH to date, but it is included in this panel to gain knowledge about its association. All inherited as autosomal recessive conditions except for XMEN syndrome and XLP1 and 2, which are inherited as X-linked disorders.

Reference Range *

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Details
Days Set Up
Monday - Friday
Analytic Time

42 days

Soft Order Code
HLH
MiChart Code
Familial Hemophagocytic Lymphohistiocytosis Panel
Synonyms
  • HLH panel
Laboratory
Sendout
Reference Laboratory
Cincinnati Children's Hospital 7524935
Section
Special Testing
Specimen Requirements
Collection

Specimens are accepted Monday through Friday, before 530 pm on Friday. (Lab does accept Saturday delivery) Collect specimen in a lavender top tube. Send intact whole blood at room temperature. Do not refrigerate or freeze.

Special Handling

Specimen must be received Monday - Friday before 530 pm. Lab does accept Saturday delivery

Normal Volume
5 mL EDTA whole blood
Minimum Volume
3 mL EDTA whole blood
Storage Temperature
Room temperature. DO NOT REFRIGERATE OR FREEZE.
Additional Information

Test sent to Cincinnati Children’s Hospital.

Billing
CPT Code
81404, 81479 x13
NY State Approved
No