Periodic Fever/Autoinflammatory Disorders NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes
  • Resources

Panel Description

Periodic Fever
Autoinflammatory Disorders

Autoinflammatory syndromes, including periodic fever syndromes, are conditions caused by dysregulation of the innate immune system. Clinically, they are characterized by recurring fever symptoms with no identifiable infection present. Additional common symptoms include rash, mouth sores, abdominal pain, and joint pain. Episodes can occur periodically or irregularly. Individuals may experience further symptoms depending on the specific condition present, these may include cardiovascular problems, hearing loss, and developmental delay or intellectual disability.This panel may be appropriate for anyone with a personal or family history of periodic fever/autoinflammatory syndromes. Testing is recommended for individuals experiencing recurrent unexplained fevers, rashes, or inflammation.Patients with molecular confirmation of a diagnosis of an autoinflammatory or periodic fever syndrome may benefit from more personalized care.
Genetic testing for periodic fever/autoinflammatory disorders can:
  • Establish or confirm the appropriate diagnosis
  • Identify risks for additional related symptoms
  • Assist in modifying lifestyle changes
  • Result in more personalized treatment and symptom management
  • Inform family members about their own risk factors
  • Connect patients to relevant resources & support
  • Provide options for family planning

Test Description

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3-5 weeks
Call for details
ACP5, ADA2, ADAM17, ADAR, AP1S3, ASAH1, CARD14, COPA, DDX58, ELANE, HAX1, HTR1A, IFIH1, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PIK3CD, PIK3R1, PLCG2, POLA1, POMP, PRG4, PRKCD, PSENEN, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, RBCK1, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SH3BP2, SLC29A3, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF1A, TREX1, TRNT1, USP18, WDR1 ( 56 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

CPT Code 81401, 81404, 81479x2

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

Resources

DescriptionDownload
Periodic Fever and Autoinflammatory Disorders