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Test ID PMNSR Postmortem Noonan and Related Panel, Varies


Ordering Guidance


This test is intended for use when EDTA whole blood is not available and formalin-fixed, paraffin-embedded (FFPE) tissue or dried blood spots are the only available samples. If EDTA whole blood is available, order NSRGP / Noonan Syndrome and Related Disorders Multi-Gene Panel, Blood.

 

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Mutation, Targeted Testing, Varies.



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. Pathology report must accompany specimen in order for testing to be performed. Include physician name and phone number with the specimen.



Specimen Required


Preferred:

Specimen Type: Tissue

Container/Tube: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.

Additional Information: Testing will be attempted on blocks of any age but may be canceled if adequate DNA concentration cannot be obtained.

Specimen Stability Information: Ambient

 

Acceptable:

Specimen Type: Blood spot

Container/Tube: Whatman FTA Classic Card or Whatman Protein Saver 903 Card

Specimen Volume: 3-5 blood spots

Collection Instructions:

1. Completely fill at least 3 circles on the filter paper card

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1. 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)

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

Useful For

Providing a comprehensive postmortem genetic evaluation in the setting of sudden cardiac death and suspicion for Noonan syndrome or related disorders

 

Identification of a pathogenic variant in the decedent, which may assist with risk assessment and predictive testing of at-risk family members

Genetics Test Information

This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate the BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, and SOS1 genes.

Highlights

This test is intended for use on postmortem samples (eg, formalin-fixed, paraffin-embedded [FFPE] tissue block; dried blood spot) when whole blood is not available.

 

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 postmortem diagnosis of Noonan syndrome, LEOPARD (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and deafness) syndrome, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, or a related disorder.

 

Identification of a pathogenic variant may assist with familial risk assessment, 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

Postmortem Noonan and Related Panel

Specimen Type

Varies

Specimen Minimum Volume

Tissue: See Specimen Required
Blood Spots: 3

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday

Report Available

6 to 8 weeks

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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 US Food and Drug Administration.

CPT Code Information

81479

81404

81311

81405 X2

81406 X6

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PMNSR Postmortem Noonan and Related Panel In Process

 

Result ID Test Result Name Result LOINC Value
BA1423 Gene(s) Evaluated 48018-6
BA1424 Result Summary 50397-9
BA1425 Result Details 82939-0
BA1426 Interpretation 69047-9
BA1427 Additional Information 48767-8
BA1428 Method 85069-3
BA1429 Disclaimer 62364-5
BA1430 Reviewed by 18771-6

NY State Approved

Yes