Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies
GTR Test Accession: Help GTR000553666.4
INHERITED DISEASEHEMATOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2021-06-09
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis; Prognostic; Risk Assessment; ...
Hemolytic anemia due to adenylate kinase deficiency; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Childhood onset GLUT1 deficiency syndrome 2; ...
AK1 (9q34.11), ALDOA (16p11.2), ANK1 (8p11.21), CD59 (11p13), CDAN1 (15q15.2), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Patients with a personal or family history suggestive of hereditary …
Samples from eighteen patient cases from the Metabolic Hematology laboratory …
Establish or confirm diagnosis; Guidance for management
Ordering Information
Offered by: Help
Test short name: Help
NGHHA
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Sarah Brunker, PhD, MS, MPH, Genetic Counselor
rstgchemepath@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
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
Test service: Help
Result interpretation
    OrderCode: 40553
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
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.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Conditions Help
Total conditions: 39
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 40
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Prognostic; Risk Assessment; Therapeutic management
Clinical validity: Help
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 … View more
Target population: Help
Patients with a personal or family history suggestive of hereditary hemolytic anemias, including RBC membrane disorders and RBC enzymopathies.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Sample reports:
Sample Negative Report Help
Sample Negative Report

Sample Positive Report Help
Sample Positive Report
Recommended fields not provided:
Technical Information
Test Procedure: Help
Next-generation sequencing (NGS) is performed using the Illumina MiSeq or HiSeq instrument with paired-end, 151-base pair (bp) reads. The DNA is prepared for NGS using a custom Agilent SureSelect Target Enrichment System. Data is analyzed with the CLC Genomics Server Program. Supplemental or confirmatory Sanger sequencing is performed when necessary … View more
Test Confirmation: Help
Supplemental or confirmatory Sanger sequencing is performed when necessary.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Fifteen samples with 30 previously described and/or reported sequencing results were tested and this assay confirmed all previously reported sequence variants with 100% accuracy using the MiSeq and orthogonal confirmatory testing method. Additionally, a variant list generated using the GeT-RM Browser on the NCBI website for two well characterized HapMap … View more
Assay limitations: Help
This assay is not intended to detect large deletions at this time. During verification, this assay accurately detected both a 25bp and 44bp deletion in the HBB. However, all suspected large deletions will be confirmed using another validated method.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Platform PT performed
VUS:
Software used to interpret novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.

Laboratory's policy on reporting novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.