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GTR Home > Tests > Diamond-Blackfan anemia 7, 612562, Autosomal dominant; DBA7 (Blackfan-Diamond anemia) (RPL11 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Diamond-Blackfan anemia 7, 612562, Autosomal dominant; DBA7 (Blackfan-Diamond anemia) (RPL11 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

  • GTR Test IDHelp: GTR000577527.1
  • Last updated: 2022-05-14
  • Annual Review past due read more
  • Test version history

Clinical testHelp for Diamond-Blackfan anemia 7
Offered by Intergen Genetic Diagnosis and Research Centre

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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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.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Macrocytic anemia
  • Choanal atresia
  • Patent ductus arteriosus
  • Esophagitis
  • Fetal distress
  • Fetal growth restriction
  • Ventricular septal defect
  • Polyhydramnios
  • Osteopenia
  • Osteoporosis
  • Scoliosis
  • Tetralogy of Fallot
  • Vesicoureteral reflux
  • Low levels of vitamin D
  • Congenital elevation of scapula
  • Horseshoe kidney
  • Recurrent infections
  • Triphalangeal thumb
  • Atresia of the external auditory canal
  • Increased mean corpuscular volume
  • Secundum atrial septal defect
  • Short thumb
  • Growth delay
  • Recurrent otitis media
  • Neutropenia
  • Hearing impairment
  • Small hypothenar eminence
  • Cleft palate
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Conditions tested

Target population

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Diamond-Blackfan anemia 7, 612562, Autosomal dominant; DBA7 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

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Clinical validity

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Not provided

Clinical utility

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Not provided

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