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Test Code NOONAN UM Noonan Spectrum Disorders Panel 

Important Note

This panel includes 15 genes: BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1 and SOS2. 

Clinical System Name

Noonan Spectrum Disorders Panel

Sample Requirements

 

Specimen: Whole Blood

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

Preferred Vol: 3 - 5 mL

Minimum Vol: 2 mL

For small babies: minimum of 1 ml

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 10 µg of purified DNA at a concentration of at least 20 µg/ml for NGS and Sanger

Minimum Vol: 5 µg of purified DNA at a concentration of at least 20 µg/ml for NGS and Sanger

 

 

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-6 C

Storage location:  Do not spin. Affix large Cerner labels to tubes and place in refrigerator send-outs rack.  Store extra labels and copy of requisition in the clear plastic box attached to CPA refrigerator. Alert Send-outs team.

 

Off-site collection:

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT Performed TAT
N   28 d

 

Performing Laboratory

PreventionGenetics 

Department

 

Department:  Prevention Genetics, 3700 Downwind Dr, Marshfield, WI 54449

Phone Number: (715) 387-0484

Reference Range

Interpretive report provided.
 

Methodology

Method: Combination of Next Generation Sequencing (NGS) and Sanger sequencing technologies to cover the full coding regions of the genes listed, plus ~20 bases of non-coding DNA flanking each exon. 

Analytical Volume:

Limitations:

Special Instructions

Links to:

 

PreventionGenetics

 

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 NextGen Sequencing (NGS) Panel 
Reference Test Number: 1309
Instructions:

Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery