GTR Test Accession: Help GTR000592422.5
Last updated in GTR: 2023-08-31
Last annual review date for the lab: 2023-08-31 LinkOut
At a Glance
Autosomal dominant aplasia and myelodysplasia; 3-Methylglutaconic aciduria type 2; Acquired polycythemia vera; ...
ABCB7 (Xq13.3), ACD (16q22.1), ACTN1 (14q24.1), ADA2 (22q11.1), ALAS2 (Xp11.21), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Individuals with a personal or family history concerning for an …
Not provided
Not provided
Ordering Information
Offered by: Help
Johns Hopkins Genomics DNA Diagnostic Laboratory
View lab's website
View lab's test page
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Test Order Code: Help
Lab contact: Help
Sumathi Rachamadugu, MS, MSc, CGC, Genetic Counselor
Hannah Shultz-Lutwyche, BS, Genetic Counselor Assistant
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
Submit completed test requisition with specimen.
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 250
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 155
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
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
Target population: Help
Individuals with a personal or family history concerning for an inherited bone marrow failure syndrome or inherited predisposition to hematologic malignancies.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variants are classified using the Standards and guidelines for the interpretation of sequence variants published by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (Richards et al, 2015, PMID 25741868).

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. Our VUS resolution program involves targeting additional family members for a VUS, with the intention of this additional information aiding in reclassification of the variant. In order to qualify for our VUS resolution program, your patient must have at least one VUS listed on a test report that was issued … View more

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sequencing: >94% for single nucleotide and >76% for small insertion/deletion variants for the nucleotides evaluated. Exonic deletions/duplications: >97% for unique regions of the genome. This test is not validated to identify small deletions/insertions of greater than 20bp, exonic deletions and duplications in pseudogenes or other repetitive regions of the genome … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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.