• Test Code:
    2135
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Cardiofaciocutaneous syndrome • Costello syndrome • Legius syndrome • Multiple Lentigenes • LEOPARD syndrome • Loose anagen hair (NSLAH) • BRAF • CBL • HRAS • KRAS • MAP2K1 • MAP2K2 • NRAS • PTPN11 • RAF1 • RIT1 • SHOC2 • SOS1 • SPRED1
  • CPT Code(s):
    81442
Background:

Mutations in genes within the Ras/mitogen activated protein kinase (MAPK) pathway are associated with a set of genetic syndromes, collectively called RASopathies. Noonan syndrome and the other RASopathies are autosomal dominant conditions with prevalence between 1:1000 and 1:2500 individuals. This next-generation sequencing test is designed to detect mutations in the coding regions of the 13 genes associated with these conditions.

 Reasons for Referral:

    • Congenital heart defect.
    • Clinical presentation consistent with Noonan syndrome or other RASopathy.
    • Confirmation of clinical diagnosis.

Methodology:

Next generation sequencing using Illumina NextSeq 500 technology of the 13 Noonan syndrome associated genes listed below: 

Noonan Syndrome

BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1

Specimen Requirements:

Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

Prenatal:

  • Direct Amniotic Fluid (10-20mL)
  • Direct CVS
  • Cultured Amnio or CVS (2-T25 flasks)

DNA: 10µg at a minimum of 100ng/µL

Notice Regarding Molecular Genetic Testing on CVS or Amniotic Fluid Specimens:

  • Maternal cell rule-out testing will be performed on all prenatal specimens received.  Please provide maternal blood in addition to the fetal specimen.  Additional charges apply for the maternal cell rule-out test.
  • All genetic testing performed on Direct CVS or Direct Amniotic Fluid specimens will be confirmed on cell cultures prepared by Knight Diagnostic Laboratories.  Cell cultures will be prepared from the specimen received.  Additional charges apply for confirmatory testing.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

Additional Info:

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