Noonan and RASopathies NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

RASopathies
The RASopathies Panel examines 23 genes associated with Noonan syndrome and other associated RASopathies.

Patients with a personal and/or family history suggestive of syndromes associated a RASopathy. Red flags for RASopathies can include, but are not limited to, craniofacial dysmorphology, cardiac malformations, musculoskeletal problems, eye abnormalities, and skin issues.

Patients identified with a RASopathy can benefit from increased surveillance and preventative steps to better manage their risks. Medical intervention can include medications and supportive care to help manage symptoms. Also, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.

Test Description

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3 - 5 weeks
Call for details
A2ML1, ACTB, ACTG1, BRAF, CBL, CDC42, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1 ( 24 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in TE 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 81210, 81404, 81405, 81406, 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

References:
- Rauen, K.A.The RASopathies. Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. (2013)