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Test Code
5351
Test Name
Noonan Syndrome Core NGS Panel
CPT Codes
81442
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Description

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 Noonan spectrum disorder NGS panel).

The Noonan syndrome core NGS panel consists of fourteen genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1 and SOS2.

Gene

Disorder

MIM

BRAF

Noonan syndrome 7 (NS7)

Cardiofaciocutaneous syndrome (CFC1)

LEOPARD syndrome 3 (LPRD3)

613706

115150

613707

CBL

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL)

Leukemia, juvenile myelomonocytic (JMML)

613563

607785

HRAS

Costello syndrome (CSTLO)

218040

KRAS

Noonan syndrome 3 (NS3)

Cardiofaciocutaneous syndrome 2 (CFC2)

RAS-associated autoimmune leukoproliferative disorder (RALD)

609942

615278

614470

LZTR1

Noonan syndrome 10 (NS10)

616564

MAP2K1

Cardiofaciocutaneous syndrome 3 (CFC3)

615279

MAP2K2

Cardiofaciocutaneous syndrome 4 (CFC4)

615280

NRAS

Noonan syndrome 6 (NS6)

613224

PTPN11

Noonan syndrome 1 (NS1)

LEOPARD syndrome 1 (LPRD1)

163950

151100

RAF1

Noonan syndrome 5 (NS5)

LEOPARD syndrome 2 (LPRD2)

611553

611554

RIT1

Noonan syndrome 8 (NS8)

615335

SHOC2

Noonan syndrome-like disorder with loose anagen hair (NSLH)

607721

SOS1

Noonan syndrome 4 (NS4)

Fibromatosis, gingival, 1 (GINGF1)

610733

135300

SOS2

Noonan syndrome 9 (NS9)

616559
Testing Schedule
Monday-Friday
Genes
BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2
Disease Group
Cardiovascular Disorders, Dysmorphology
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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