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Test Code NGHIS MayoComplete Histiocytic Neoplasms, Next-Generation Sequencing, Varies


Shipping Instructions


Whole blood, bone marrow aspirate, and body fluid specimens must arrive within 14 days of collection.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Bone marrow aspirate

Container/Tube:

Preferred: Lavender or pink top (EDTA) or yellow top (ACD)

Acceptable: Green top (sodium heparin)

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send bone marrow specimen in original tube. Do not aliquot.

3. Label specimen as bone marrow.

Specimen Stability Information: Ambient (preferred) 14 days/Refrigerate

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender or pink top (EDTA) or yellow top (ACD)

Acceptable: Green top (sodium heparin)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Label specimen as peripheral blood.

Specimen Stability Information: Ambient (preferred) 14 days/Refrigerate

 

Specimen Type: Paraffin-embedded tissue

Container/Tube: Paraffin block

Collection Instructions:

1. Send 1 representative slide stained with hematoxylin and eosin.

2. Minimum amount of tumor nuclei is 20%.

3. Required amount of tissue area is at least 25 mm(2).

4. Tissue should be fixed in 10% neutral-buffered formalin. Other fixatives are not acceptable.

5. Decalcified specimens (eg, bone marrow core biopsies) are not acceptable.

Specimen Stability Information: Ambient

 

Specimen Type: Tissue slide

Slides: 10 unstained slides

Container/Tube: Transport in plastic slide holders.

Collection Instructions:

1. Send 10 unstained, nonbaked slides with 5-micron thick sections of tissue and 1 representative slide stained with hematoxylin and eosin.

2. Minimum amount of tumor nuclei is 20%.

3. Required amount of tissue area is at least 25mm(2).

4. Tissue should be fixed in 10% neutral-buffered formalin. Other fixatives are not acceptable.

5. Decalcified specimens (eg, bone marrow core biopsies) are not acceptable.

Specimen Stability Information: Ambient

 

Specimen Type: Frozen tissue

Container/Tube: Plastic container

Specimen Volume: 100 mg

Collection Instructions: Freeze tissue within 1 hour of collection

Specimen Stability Information: Frozen

 

Specimen Type: Body fluid

Container/Tube: Sterile container

Specimen Volume: 5 mL

Specimen Stability Information: Refrigerated 14 days/Frozen

 

Specimen Type: Extracted DNA

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions:

1. Label specimen as extracted DNA and source of specimen

2. Indicate volume and concentration of DNA on label

Specimen Stability Information: Frozen (preferred)/Refrigerated/Ambient


Secondary ID

618480

Useful For

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with histiocytic neoplasms

Genetics Test Information

This test includes next-generation sequencing to evaluate the following 8 genes and select intronic regions: ARAF, BRAF, CSF1R, KRAS, MAP2K1, NRAS, PIK3CA, and PTEN. For a list of genes and exons targeted by this test, see Targeted Genes Interrogated by MayoComplete Histiocytic Neoplasms Next-Generation Sequencing.

Method Name

Next-Generation Sequencing (NGS)

Reporting Name

Histiocytic Neoplasms, NGS, V

Specimen Type

Varies

Specimen Minimum Volume

Whole blood, bone marrow aspirate, body fluid: 1 mL; Frozen tissue: 50 mg; Extracted DNA: 100 microliters (mcL) at 20 ng/mcL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies 14 days

Reject Due To

Gross hemolysis Reject
Gross lipemia OK
Specimens that have been decalcified (all methods)
Bone marrow core biopsies
Paraffin shavings
Fixatives other than 10% neutral-buffered formalin for paraffin-embedded tissue
Moderately to severely clotted bone marrow aspirate		 Reject

Clinical Information

Histiocytic neoplasms are a diverse group of disorders characterized by the infiltration of neoplastic histiocytes within various tissues. Traditionally classification has been based on histopathology and limited immunohistochemical markers, as well as specific clinical presentations. Distinction between entities can be diagnostically difficult. Recently, genomic profiling by next-generation sequencing has revealed recurrent mutations in several genes that can be used to better subclassify entities in this challenging group of neoplasms. Furthermore, mutations involving the mitogen-activated protein kinase (MAPK) pathway (eg, BRAF, MAP2K1) have potential therapeutic implications for the use of targeted BRAF and MEK inhibitors.

Reference Values

An interpretive report will be provided.

Interpretation

Genomic variants detected by this test will be documented in a detailed laboratory-issued report. This report will contain information regarding the detected alterations and their associations with prognosis or possible therapeutic implications in histiocytic neoplasms. The information in the clinical report may be used by the patient’s clinician to help guide decisions concerning management. Final interpretation of next-generation sequencing results requires correlation with all relevant clinical, pathologic, and laboratory findings and is the responsibility of the managing clinician.

Day(s) Performed

Monday through Friday

Report Available

16 to 21 days

Specimen Retention Time

Bone marrow aspirate/whole blood: 2 weeks; DNA: 3 months; Tissue: 1 month; FFPE tissue: Unused portions of blocks will be returned to the client; Unstained slides/body fluid: Not retained

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. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81450

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NGHIS Histiocytic Neoplasms, NGS, V 104240-7

 

Result ID Test Result Name Result LOINC Value
MP077 Specimen Type 31208-2
MP078 Indication for Test 42349-1
618525 NGHIS Result No LOINC Needed
618526 Pathogenic Mutations Detected 82939-0
618527 Interpretation 69047-9
618529 Variants of Unknown Significance 93367-1
618530 Additional Information 48767-8
618528 Clinical Trials 82786-5
618531 Method Summary 85069-3
618532 Disclaimer 62364-5
618533 Panel Gene List 36908-2
618534 Reviewed By 18771-6