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Test Code NGHHA Hereditary Hemolytic Anemia Comprehensive Panel, Next-Generation Sequencing, Varies

Useful For

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies and congenital dyserythropoietic anemia


Comprehensive testing for patients in whom previous targeted gene variant analyses were negative for a specific hereditary hemolytic anemia


Establishing a diagnosis of a hereditary hemolytic anemia or related disorder, allowing for appropriate management and surveillance of disease features based on the gene involved, especially if splenectomy is a consideration(2)


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

Method Name

Next-Generation Sequencing (NGS)

Reporting Name

Hereditary Hemolytic Anemia Seq, V

Specimen Type


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 ordering the HAEV1 / Hemolytic Anemia Evaluation Profile 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)


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

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

Reference Values

An interpretive report will be provided.

Day(s) Performed


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


LOINC Code Information

Test ID Test Order Name Order LOINC Value
NGHHA Hereditary Hemolytic Anemia Seq, V In Process


Result ID Test Result Name Result LOINC Value
NGHHS Specimen Type 31208-2
NGHHD Indication for Test 42349-1
40552 Alterations Detected 82939-0
40553 Interpretation 59465-5
40554 Additional Notes 48767-8
40555 Method Summary 85069-3
40556 Disclaimer 62364-5
40558 Panel Gene List 36908-2
40559 Reviewed By 18771-6


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826) 

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