Invitae Legius Syndrome Test
Use
The Invitae Legius Syndrome Test analyzes the SPRED1 gene, which is associated with Legius syndrome. Legius syndrome is a pediatric disorder within the RASopathies, linked to the mitogen-activated protein kinase (Ras/MAPK) pathway. It's characterized by café-au-lait macules, axillary and inguinal freckling, macrocephaly, and lipomas. The test can confirm a diagnosis and inform treatment and management. It aids in testing and diagnosing at-risk relatives.
Special Instructions
Not provided.
Limitations
This assay achieves >99% analytical sensitivity and specificity for SNVs, indels <15bp, exon-level deletions/duplications, and some larger indels. Structural rearrangements, complex sequence variants, and certain non-coding regions are not covered. Rare cases of quality reduction may affect results.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
SPRED1
GeneSPRED1
Gene
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant