Number of Panel Genes: 
14

Noonan syndrome is a genetically heterogeneous autosomal dominant developmental disorder.  Typical clinical features include postnatal onset of short stature, cardiovascular defects, developmental delay, characteristic facial features, cutaneous findings, and an increased risk for specific types of cancer.  Noonan syndrome overlaps clinically with several other disorders including Baraitser-Winter syndrome, Legius syndrome, and Neurofibromatosis (see read more

Tests Available

14 Panel Genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2
Next Generation Sequencing
$1,100
Test Code: 5349
Deletion / Duplication
$990
Test Code: 5350
NGS/Del Dup Comprehensive
$1,300
Test Code: 5351

Test Details

Technical Information
Panel Genes: 
BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Cardiovascular Disorders
Billing
Price: 
$1,100
CPT Codes: 
81442 x 1
Ordering
SKU:
5349
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

Search Tests

TIP: enter a partial disorder name or gene to widen your search