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GTR Home > Tests > Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies

Overview

Test order codeHelp: NGHHA

Test name

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Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies (NGHHA)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Prognostic, Risk Assessment, Therapeutic management

Condition

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Click Indication tab for more information.

How to order

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The following information is required on patient information or test request form: 1. Clinical diagnosis 2. Pertinent clinical history 3. Differentials based on clinical or morphologic presentation 4. Date of collection 5. Specimen type, whole blood or extracted DNA
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Guidance for management

Clinical validity

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Samples from eighteen patient cases from the Metabolic Hematology laboratory that had other clinical testing results (CE, HPLC, RBC enzyme levels, morphology) used to diagnose the patient were sequenced. The data for all patient cases revealed reportable sequence alterations in genes associated with the patient's phenotype and diganosis. All variants identified by the MiSeq assay were confirmed by the orthogonal testing method.

Citations

Not provided

Testing strategy

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This test is best interpreted in the context of protein studies and peripheral blood findings. This can be provided by ordering the HAEVP / Hemolytic Anemia Evaluation Profile test. Please fill out the information sheet and indicate that NGS testing was also ordered. 000 The following information is required on patient information or test request form: 1. Clinical diagnosis 2. Pertinent clinical history 3. Differentials based on clinical or morphologic presentation 4. Date of collection 5. Specimen type, whole blood or extracted DNA

Test services

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  • Result interpretation, Order code: 40553

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.