Whole Blood (preferred sample type): 1 FULL vacutainer with ACD A or B, EDTA, or Heparin (ACD is preferred but not required)
Buccal Swabs: Collect two foam-tipped swabs prior to food or drink, or after thoroughly rinsing mouth with water.
[Preferred Swab: Puritan cat. no. 25-1506 1PF available from Andwin Scientific at 951.674.5646 for distribution information.]
Buccal Swab: Collect 2 buccal swabs from inside of cheek prior to food or drink. If not possible, rinse mouth thoroughly with water prior to swabbing.Collect buccal swab samples by brushing the inside surface of 1 cheek with moderate pressure, approximately 20 times. Repeat this process with a second swab on the opposite cheek. Clearly label the sterile swab sleeve with collection date, the patient's first and last name, and patient ID number or birth date. Return swabs to sterile packaging, seal with tape.
Minimum volume: 1mL whole blood or 2 buccal swabs
Whole Blood: Send blood Priority Overnight via FedEx and in a well insulated container on an ice pack.
Buccal Swabs: Place swabs in sterile packaging, seal with tape, and ship samples in a padded envelope at room temperatures.
The STAT3 gene belongs to the STAT family of transcriptional regulators which play prominent roles in
cell development, differentiation, and cell death. Genomic mutations within the DNA binding and SH2 (SRC homology 2) domains of the signal transducer and activator of transcription 3 (STAT3) gene result in autosomal dominant Hyper IgE Syndrome. Nonfunctional STAT3 protein impairs the development of IL- 17 producing TH17 effector T cells which play a key role in controlling fungal and bacterial infections observed in HIES. The identification of STAT3 mutations in patients with clinical features concerning for AD-HIES may facilitate early diagnosis of AD-HIES and initiation of appropriate therapeutic measures.
This assay detects only genomic mutations within the part of the DNA binding and SH2 (SRC homology
2) domains of the STAT3 gene and does NOT detect ALL reported STAT3 mutations associated with ADHIES. The STAT3 sequencing assay design includes the following protein amino acids: 371 – 427, 456 – 533, and 584 – 700. Other variants associated with AD-HIES outside of the STAT3 sequencing region or in other genes will not be detected. Rare variants within the primer regions may also interfere with this assay.
Informed Consent is required prior to completing any of the following tests. Consent must be obtained by the provider and maintained in the patient medical record. Download and print an informed consent form here.
PCR followed by DNA sequencing
4 weeks from when specimen is received in the laboratory.
Molecular Diagnostics Lab
Molecular (STAT3 SH2 and DNA Binding Sequencing)