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Test Code NCYB Recessive Congenital Methemoglobinemia, CYB5 and CYB5 Reductase Genetic Analysis, Next-Generation Sequencing, Varies


Ordering Guidance


This test should be performed after more common causes of methemoglobinemia have been eliminated. To assess for more common causes of methemoglobinemia, order MEV1 / Methemoglobinemia Evaluation, Blood.

 

Multiple gene panels are available. For more information see Hereditary Erythrocytosis Gene Panel and Subpanel Comparison.

 

Targeted testing for familial variants (also called site-specific or known variants testing) is available for the CYB5A and CYB5R3 genes. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.



Additional Testing Requirements


This test is best interpreted in the context of protein functional findings by enzymatic assay and complete blood cell count analysis. This complete interpretation can be provided by also ordering the MEV1 / Methemoglobinemia Evaluation, Blood. 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


 



Necessary Information


1. Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information is strongly recommended but not required. Testing may proceed without the patient information; however, it aids in providing a more thorough interpretation. Ordering healthcare professionals are strongly encouraged to complete the form and send it 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 any previous bone marrow studies, clinical or morphologic presentation.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a bone marrow transplant, call 800-533-1710.

Specimen Type: Whole blood

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 4 days

Additional Information: To ensure minimum volume and concentration of DNA are met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.


Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the CYB5A and CYB5R3 genes associated with autosomal recessive congenital methemoglobinemia. 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 congenital methemoglobinemia.

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
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

81479