Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946, X-linked recessive; DBA14 (Blackfan-Diamond anemia) (TSR2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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.: GTR000577334.1
Last updated: 2022-05-14
Annual Review past due read more
Test version history
- 577334.1, last updated: 2022-05-14

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 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Offered by Intergen

Indication

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

Imported from GeneReviews

Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.

Imported from Human Phenotype Ontology (HPO)

Macrocytic anemia
Conductive hearing impairment
Micrognathia
Microtia
Persistence of hemoglobin F
Atresia of the external auditory canal
Increased mean corpuscular volume
Downslanted palpebral fissures
Unilateral cryptorchidism
Sparse eyelashes
Midface retrusion
Cleft palate

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Conditions tested

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946, X-linked recessive; DBA14 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946, X-linked recessive; DBA14 (Blackfan-Diamond anemia) (TSR2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Indication

Clinical summary

Imported from GeneReviews

Clinical features