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Test Code NGENZ Red Blood Cell Enzyme Sequencing, 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 or (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


Forms

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2. Hemolytic Anemia Patient Information Form (T705) in Special Instructions.

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

Useful For

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

 

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 Enzyme Sequencing, V

Specimen Type

Varies

Specimen Minimum Volume

Blood, Bone Marrow: 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

Analytic Time

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 U.S. Food and Drug Administration.

CPT Code Information

81350-UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (eg, irinotecan metabolism), gene analysis, common variants (eg, *28, *36, *37)

81364-HBB

81405-PKLR

81479-AK1, ALDOA, GPI, GSR, GSS, HBD, HK1, HMOX1, NT5C3A, PGK1, TPI1, GCLC and PFKM

81249-G6PD

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NGENZ RBC Enzyme Sequencing, V In Process

 

Result ID Test Result Name Result LOINC Value
NGENS Specimen Type 31208-2
NGEND Indication for Test 42349-1
40560 Alterations Detected 82939-0
40561 Interpretation 59465-5
40562 Additional Notes 48767-8
40563 Method Summary 49549-9
40564 Disclaimer 62364-5
40566 Panel Gene List 36908-2
40567 Reviewed By 18771-6