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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.: GTR000592422.5
Last updated: 2023-08-31
Test version history
- 592422.5, last updated: 2023-08-31
- 592422.4, last updated: 2023-08-23
- 592422.3, last updated: 2023-06-09
- 592422.2, last updated: 2022-08-30
- 592422.1, last updated: 2021-02-12

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 Autosomal dominant aplasia and myelodysplasia
Offered by Johns Hopkins Genomics DNA Diagnostic Laboratory

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis

Imported from OMIM

Bone marrow failure syndrome-1 (BMFS1) is an autosomal dominant condition characterized by early-onset aplastic anemia or pancytopenia in some patients, and adult-onset myelodysplasia in others. Deafness or labyrinthitis also has been observed in affected individuals (Kirwan et al., 2012). Genetic Heterogeneity of Bone Marrow Failure Syndrome See also BMFS2 (615715), caused by mutation in the ERCC6L2 gene (615667) on chromosome 9q22; BMFS3 (617052), caused by mutation in the DNAJC21 gene (617048) on chromosome 5p13; BMFS4 (618116), caused by mutation in the MYSM1 gene (612176) on chromosome 1p32; BMFS5 (618165), caused by mutation in the TP53 gene (191170) on chromosome 17p13; BMFS6 (618849), caused by mutation in the MDM4 gene (602704) on chromosome 1q32; BMFS7 (AMEDS; 619151), caused by mutation in the ADH5 gene (103710) on chromosome 4q accompanied by a specific mutation in the ALDH2 gene (100650) on chromosome 12q24; and BMFS8 (ZHS; 620501), caused by mutation in the SLC30A7 gene (611149) on chromosome 1p21.

Imported from Human Phenotype Ontology (HPO)

Aplastic anemia
Sensorineural hearing impairment
Myelodysplasia
Pancytopenia
Bone marrow hypocellularity

Conditions tested

Individuals with a personal or family history concerning for an inherited bone marrow failure syndrome or inherited predisposition to hematologic malignancies.

Citations

none

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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.

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Indication

Clinical summary

Imported from OMIM

Clinical features