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Test Code MISC2MAYONGMEM Red Blood Cell Membrane Sequencing, Varies

Secondary ID

64938

Useful For

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an RBC membrane disorder

 

Second-tier testing for patients in whom previous targeted gene mutation 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 mutations within genes associated with phenotypic severity, allowing for predictive testing and further genetic counseling

Method Name

Hereditary Mutation Detection by Next-Generation Sequencing (NGS)

Reporting Name

RBC Membrane Sequencing, V

Specimen Type

Varies


Shipping Instructions


Peripheral blood specimens must arrive within 30 days of collection.



Necessary Information


The following information is required on patient information or test request form:

1. Clinical diagnosis

2. Pertinent clinical history (submit CBC results and relevant clinical notes)

3. Differentials based on clinical or morphologic presentation

4. Date of collection

5. Specimen type, whole blood or extracted DNA



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 specimen in original tube.

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


Specimen Minimum Volume

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

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

Hemolysis

Mild OK; Gross reject

Lipemia

Mild OK; Gross OK

Icterus

NA

Other

Bone marrow biopsies, slides, paraffin shavings, frozen tissues, paraffin-embedded tissues, paraffin-embedded bone marrow aspirates

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday

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 U.S. Food and Drug Administration.

CPT Code Information

81364

81405

81479

81479 (if appropriate for government payers)

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 49549-9
40572 Disclaimer 62364-5
40574 Panel Gene List 36908-2
40575 Reviewed By 18771-6

Forms

Metabolic Hematology Next-Generation Sequencing (NGS) Information in Special Instructions