Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000553666.4
- Last updated: 2022-05-31
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Hemolytic anemia due to adenylate kinase deficiency
Offered by Mayo Clinic Laboratories
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies (NGHHA)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Prognostic, Risk Assessment, Therapeutic management
Click Indication tab for more information.
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 HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.mayocliniclabs.com/order-tests/index.html
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Establish or confirm diagnosis
Guidance for management
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.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
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.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
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- 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.