Invitae RASopathies and Noonan Spectrum Disorders Panel

Casandra

Casandra Test Code IN04151Version 1 (DRAFT)

Performing Lab

Lab Invitae CorporationLab Test ID 04151

Invitae RASopathies and Noonan Spectrum Disorders Panel

Clinical Use

Use

The Invitae RASopathies and Noonan Spectrum Disorders Panel analyzes genes in the Ras/MAPK pathway associated with pediatric conditions termed "RASopathies" or Noonan Spectrum Disorders. These disorders are characterized by features such as short stature, distinctive facial appearances, heart defects, developmental delays, and an increased risk of malignancies. The genetic heterogeneity makes it challenging to pinpoint a definitive cause based purely on phenotype, so broad panel testing is employed to evaluate several potential genes for a single clinical indication, aiding in diagnosis, treatment planning, and management decisions, as well as recurrence-risk assessment and genetic counseling.

Special Instructions

Preferred specimen: 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA). Alternate specimens include saliva, buccal swab, and genomic DNA (gDNA). For complete test description and details on each gene or variant type covered or excluded by this assay, refer to the specific test definition at Invitae.

Limitations

The assay has over 99% analytical sensitivity and specificity for SNVs and indels 15bp but <exon length. Some variants like structural rearrangements or those embedded in complex sequence may not be detected. The analysis does not cover all non-coding exons and promoter regions unless specified.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

The panel includes full-gene sequencing and copy number variation analysis using next-generation sequencing technology covering coding exons and adjacent intronic sequences. It is designed to detect SNVs, small indels, and exon-level CNVs across 28 genes relevant to RASopathies and Noonan Spectrum Disorders.

Mutation (28 genes)