Number of Panel Genes: 
25

The Noonan spectrum disorders are a clinically overlapping group of developmental disorders caused by mutations in genes involved in the RAS-MAPK signaling pathway (RASopathies).  Clinical features of these disorders include short stature, cardiovascular defects, developmental delays, characteristic facial features, cutaneous findings, and an increased risk for specific types of cancer.  The disorders included on this panel are Noonan syndrome, LEOPARD syndrome, Cardio-facialread more

Tests Available

25 Panel Genes: A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
Next Generation Sequencing
$1,520
Test Code: 5079
Deletion / Duplication
$990
Test Code: 5080
NGS/Del Dup Comprehensive
$1,895
Test Code: 5081

Test Details

Technical Information
Panel Genes: 
A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Cardiovascular Disorders
MIM: 
163950
151100
609942
615278
610733
611553
611554
613224
613706
115150
613707
615355
615279
615280
218040
607721
613563
611431
616564
601321
601247
Billing
Price: 
$1,520
CPT Codes: 
81442 x 1
Ordering
SKU:
5079
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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