Test Code LAB3353 Noonan Spectrum Disorders Panel
Additional Codes
Noonan Pnl
Clinical System Name
Noonan Spectrum Disorders Panel
Description
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.
Stability
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 |
Availability
STAT | TAT |
---|---|
N | 3 - 4 w |
Performing Laboratory
PreventionGenetics
3800 S. Business Park Ave.
Marshfield, WI 54449
Phone Number: (715) 387-0484
Department
Department: Sendouts
Phone Number: (206) 987-2563
Reference Range
Interpretive report is provided.
Methodology
Method:
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.
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. |