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Test ID NSRGP Noonan Syndrome and Related Disorders Multi-Gene Panel, Blood

Useful For

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome (NS) or related disorders

 

Establishing a diagnosis of a NS or related disorders, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved

 

Identifying variants within genes known to be associated with increased risk for disease features allowing for predictive testing of at-risk family members

Genetics Test Information

This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate the genes tested on this panel.

 

Prior Authorization is available for this assay; see Special Instructions.

Highlights

This test uses next-generation sequencing to test for variants in the BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, and SOS1 genes.

 

This test may aid in the diagnosis of Noonan syndrome, LEOPARD syndrome, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, or a related disorder. This test cannot distinguish between germline variants associated with Noonan syndrome and related disorders versus somatic (oncogenic, nongermline) variants, which may be associated with hematologic neoplasms. Therefore, this test does not provide diagnostic, prognostic, or therapeutic information for somatic variants. Variants detected by this test are interpreted as germline unless otherwise noted in the interpretation.

 

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing Followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing

Reporting Name

Noonan Syndrome and Related Panel,B

Specimen Type

Whole Blood EDTA


Advisory Information


Alternative tests designed to detect somatic variants associated with hematologic neoplasms are available; see NGSHM / OncoHeme Next-Generation Sequencing (NGS), Hematologic Neoplasms.

 

Targeted testing for familial variants (also called site-specific or known mutation testing) is available for the genes on this panel. See:

-KVAR1 / Known Variant Analysis-1 Variant, Varies

-KVAR2 / Known Variant Analysis-2 Variants, Varies

-KVAR3 / Known Variant Analysis-3+ Variants, Varies

 

Call 800-533-1710 to confirm the appropriate test for targeted testing.



Necessary Information


1. Noonan Spectrum Gene Testing Patient Information Sheet (T689) is required, see Special Instructions. Testing may proceed without the patient information however it aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to complete the form and send it with the specimen.

2. Include physician name and phone number with specimen.



Specimen Required


Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions: Send specimen in original tube.

Additional Information: Prior Authorization is available for this test. Submit the required form with the specimen.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood EDTA Ambient (preferred)
  Refrigerated 

Reference Values

An interpretive report will be provided. 

Day(s) and Time(s) Performed

Wednesday; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81479-CBL

81404-HRAS

81311-NRAS

81405 x 2-KRAS, SHOC2

81406 x 6-BRAF, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NSRGP Noonan Syndrome and Related Panel,B In Process

 

Result ID Test Result Name Result LOINC Value
36821 Gene(s) Evaluated 36908-2
36822 Result Summary 50397-9
36823 Result Details 82939-0
36824 Interpretation 59462-2
36953 Additional Information 48767-8
36954 Method 49549-9
36955 Disclaimer 62364-5
36825 Reviewed by 18771-6

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Prior Authorization

Insurance preauthorization is available for this testing; forms are available in Special Instructions.

 

Patient financial assistance may be available to those who qualify. Patients who receive a bill from Mayo Clinic Laboratories will receive information on eligibility and how to apply.

NY State Approved

Yes

Forms

1. Noonan Spectrum Gene Testing Patient Information Sheet (T689) is required, see Special Instructions.

2. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

3. Noonan Syndrome and Related Disorders Multi-Gene Panel Prior Authorization Ordering Instructions in Special Instructions

4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.