Periodic Fever Sequencing Panel

Test Information

Turnaround Time

8-10 weeks

CPT Code(s)

81404, 81479

Cost

$2500

Genes

Clinical Information

Periodic fevers are a heterogeneous group of conditions that are associated with variability in age of onset, severity, presentation, frequency, and duration of episodes. These episodes may be triggered by exposure to cold, illness or infection, stress, and overexertion. In addition to fever, common features include joint and muscle pain, rash or acne, conjunctivitis, swollen lymph nodes, abdominal pain, and pleuritis. Laboratory evidence of illness is typically present and may include increased sedimentation rate, leukocytosis, anemia, and neutropenia. Some patients experience kidney problems that can lead to kidney failure, and hepatosplenomegaly may occur. Uncommon findings limited to specific types of periodic fever can include dysmorphic features, contractures, growth abnormalities, seizures, hearing and vision loss, cardiomyopathy, and developmental delay. Most forms of periodic fever are inherited in an autosomal dominant pattern, but some appear to be autosomal recessive.

Indications

For patients with a specific suspected disorder, individual gene sequencing should be considered first.

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

Next Generation Sequencing

Detection

The current design of this panel covers all genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3' untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts.

We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA is also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

NGS Panel, NGS Panels
Meet The Jones Family

Meet The Jones Family

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered. ...

In The News