U.S. flag

An official website of the United States government

GTR Home > Tests > Fanconi Anemia: Full gene sequencing panel

Fanconi Anemia: Full gene sequencing panel

  • GTR Test IDHelp: GTR000562064.2
  • Last updated: 2022-12-05
  • Test version history

Clinical testHelp for Fanconi anemia, complementation group S
Offered by CEN4GEN Institute for Genomics and Molecular Diagnostics

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Risk Assessment

Clinical summary

Help

Imported from GeneReviews

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.

Clinical features

Help

Imported from Human Phenotype Ontology (HPO)

  • Anemia
  • Blepharophimosis
  • Cerebellar ataxia
  • Hypertelorism
  • Dental malocclusion
  • Microphthalmia
  • Macrodontia
  • Short stature
  • Chromosome breakage
  • Upslanted palpebral fissure
  • Delayed speech and language development
  • Global developmental delay
  • Breast carcinoma
  • Epicanthus
  • Neoplasm of ovary
  • Narrow palate
  • Underdeveloped nasal alae
  • Anteverted nares
  • Low anterior hairline
  • Coarse facial features
  • Thick upper lip vermilion
  • Long eyelashes
  • Prominent nasal bridge
  • Proximal placement of thumb
  • Failure to thrive
  • Intellectual disability
  • Clinodactyly
  • Microcephaly
  • Ovarian carcinoma
  • Sparse hair
Show all

Conditions tested

Target population

Help

Not provided

Clinical validity

Help

Not provided

Clinical utility

Help

Not provided

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.