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Test Code NENZ Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies


Ordering Guidance


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

 

Customization of this panel and single gene analysis for any gene present on this panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.

 

Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.



Additional Testing Requirements


This panel aids in the diagnosis and genetic counseling of individuals with inherited red blood cell enzymopathies, possible carrier states, or compound variants with severity modulating interactions. This test is best interpreted in the context of protein functional findings by enzymatic assay, complete blood cell count, and peripheral blood findings. This complete interpretation can be provided by also ordering the EEEV1 / Red Blood Cell (RBC) Enzyme Evaluation, Blood or HAEV1 / Hemolytic Anemia Evaluation, Blood. Fill out the information sheet and indicate that a next-generation sequencing test was also ordered. Additionally, providing complete blood cell count data and clinical notes will allow a more precise interpretation of results.



Shipping Instructions


Specimen preferred to arrive within 96 hours 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 previous enzyme testing, clinical or morphologic presentation.



Specimen Required


Specimen Type: Whole blood

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

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

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated


Forms

1. Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information (T816) is required.

2. 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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755)with the specimen.

Useful For

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

 

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

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 15 genes associated with inherited red blood cell enzymopathies: AK1, ALDOA, G6PD, GCLC, GPI, GSR, GSS, HK1, HMOX1, NT5C3A, PFKM, PGK1, PGLS, PKLR, and TPI1. See Method Description for additional details.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for inherited red blood cell enzymopathies.

Reporting Name

RBC Enzyme Sequencing, NGS

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

28 to 42 days

Specimen Retention Time

Whole blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81443

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NENZ RBC Enzyme Sequencing, NGS In Process

 

Result ID Test Result Name Result LOINC Value
619048 Test Description 62364-5
619049 Specimen 31208-2
619050 Source 31208-2
619051 Result Summary 50397-9
619052 Result 82939-0
619053 Interpretation 59465-5
619054 Additional Results 82939-0
619055 Resources 99622-3
619056 Additional Information 48767-8
619057 Method 85069-3
619058 Genes Analyzed 82939-0
619059 Disclaimer 62364-5
619060 Released By 18771-6