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Test Code LAB3353 Noonan Spectrum Disorders Panel 

Additional Codes

Noonan Pnl

Clinical System Name

Noonan Spectrum Disorders Panel


This panel includes sequencing and CNV detection of 24 genes: A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, and SPRED1

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 5.0 mL

Minimum Vol: 3.0 mL (1.0 mL for small infants)


Specimen: DNA

Container(s): Sterile Plastic Tube

Preferred Vol: 5 µg -10 µg of purified DNA at a concentration of at least 20 µg/ml


Alternative Specimen (e.g. salvia or buccal): Alternate Specimen Collection Kits for Genetic Testing

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2 - 8 C

Storage Location: Do not spin. Affix large Epic label(s) to tube(s) and place in CPA refrigerator Send Outs rack.


Off-site Collection: Transport refrigerated.


Specimen Type Temperature Time
Whole Blood Room Temp 3 d
  Refrigerated 7 d
  Frozen Unacceptable
Extracted DNA Room Temp 3 - 4 d
  Refrigerated 1 y
  Frozen Indefinitely


N 3 - 4 w


Performing Laboratory


3800 S. Business Park Ave.

Marshfield, WI 54449


Phone Number: (715) 387-0484


Department: Sendouts

Phone Number: (206) 987-2563

Reference Range

Interpretive report is provided.



For this Next Generation Sequencing (NGS) test, sequencing is accomplished by capturing specific regions with an optimized solution-based hybridization kit, followed by massively parallel sequencing of the captured DNA fragments. Additional Sanger sequencing is performed for regions not captured or with insufficient number of sequence reads.

For Sanger sequencing, polymerase chain reaction (PCR) is used to amplify targeted regions. After purification of the PCR products, cycle sequencing is carried out using the ABI Big Dye Terminator v.3.0 kit. PCR products are resolved by electrophoresis on an ABI 3730xl capillary sequencer. In nearly all cases, cycle sequencing is performed separately in both the forward and reverse directions.

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported.

Special Instructions

Links to:



Sample details, PreventionGenetics 

Clinical Utility

The Noonan Spectrum Disorders, also known as RASopathies, are a group of developmental syndromes characterized by extensive clinical and genetic heterogeneity. They include:

1- Noonan syndrome
2- Cardio-facio-cutaneous syndrome
3- Noonan syndrome with multiple lentigines, previously known as LEOPARD syndrome
4- Costello syndrome


Although there is a considerable phenotypic overlap among the various syndromes, each syndrome is characterized by distinct clinical features.

Send Out Instructions

Reference Test Name: Noonan Spectrum Disorders/RASopathies Panel
Reference Lab Test Code: 10327
Instructions: Ship Monday through Friday via FedEx Priority Overnight. Saturday deliveries are accepted.