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Test Code NGMEM Red Blood Cell Membrane Panel, Next-Generation Sequencing, Varies


Ordering Guidance


Multiple hematology gene panels are available. For more information, see NGHHA and Subpanel Comparison Gene List.



Additional Testing Requirements


This test is best interpreted in the context of protein studies and peripheral blood findings. This can be provided by also ordering the RBCME / Red Blood Cell Membrane Evaluation, Blood test. Fill out the information sheet and indicate that a next-generation sequencing test was also ordered. Providing complete blood cell count data and clinical notes will also allow more precise interpretation of results.



Shipping Instructions


Peripheral blood specimens must arrive within 30 days of collection.



Necessary Information


1. Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information is required. Testing may proceed without the patient information, however, the information aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to fill out the form and send with the specimen.

2. If form not provided, include the following information with the test request: clinical diagnosis, pertinent clinical history (ie, complete blood cell count results and relevant clinical notes) and differentials based on clinical or morphologic presentation.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Peripheral blood (Preferred)

Container/Tube:

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

Acceptable: Green top (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 blood.

Specimen Stability: Refrigerated ≤30 days

 

Specimen Type: Extracted DNA

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions:

1. Indicate volume and concentration of the DNA.

2. Label specimen as extracted DNA and source of specimen.

Specimen Stability: Frozen/Refrigerated/Ambient ≤30 days


Useful For

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a red blood cell (RBC) membrane disorder

 

Second-tier testing for patients in whom previous targeted gene variant analyses were negative for a specific RBC membrane disorder

 

Establishing a diagnosis of a hereditary RBC membrane disorder, allowing for appropriate management and surveillance of disease features based on the gene involved, especially if splenectomy is a consideration(4)

 

Identifying variants within genes associated with phenotypic severity, allowing for predictive testing and further genetic counseling

Method Name

Next-Generation Sequencing (NGS)

Reporting Name

RBC Membrane Sequencing, V

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL
Extracted DNA: 100 mcL at 20 ng/mcL concentration

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

Gross hemolysis Reject
Gross lipemia OK
Bone marrow biopsies
Slides
Paraffin shavings
Frozen tissues
Paraffin-embedded tissues
Paraffin-embedded bone marrow aspirates
Reject

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday

Report Available

8 to 10 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

81364

81405

81479

81404

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NGMEM RBC Membrane Sequencing, V In Process

 

Result ID Test Result Name Result LOINC Value
NGMES Specimen Type 31208-2
NGMED Indication for Test 42349-1
40568 Alterations Detected 82939-0
40569 Interpretation 59465-5
40570 Additional Notes 48767-8
40571 Method Summary 85069-3
40572 Disclaimer 62364-5
40574 Panel Gene List 36908-2
40575 Reviewed By 18771-6