Bloom Syndrome

Bloom syndrome (BS) is a rare disorder characterized by severe prenatal and postnatal growth retardation, sun-sensitive facial erythema and predisposition to multiple cancers. The development of cancer is the most frequent complication and involves cancers of the skin, leukocytes, lymphoid tissues, connective tissues, germ cells, nervous system and kidneys. Other common findings in individuals with BS include learning disabilities, recurrent infections, chronic pulmonary disease and diabetes mellitus. Infertility is common in male patients. While most female patients do not experience infertility, they have been found to enter menopause prematurely. Affected individuals of different ethnic groups share a similar phenotype. Although BS is rare, it is more common in the Ashkenazi Jewish population due to a founder effect. Bloom syndrome is often in the differential diagnosis when there is unexplained severe intrauterine and postnatal growth retardation or the presentation of cancer in a very young individual.

Tests Available

Forms and Documents

Test Details

BLM
  • Confirmation of a clinical diagnosis or positive cytogenetic testing for sister chromatid exchange (SCE)
  • Carrier testing in at-risk family members
  • Prenatal diagnosis for known mutations
  • Capillary Sequencing

Ordering

372
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81209x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Hickson, I et al., (2001) Biochem Soc Trans. 29:201-204.
  2. http://bioinf.uta.fi/BLMbase/
  3. Roa, B et al., (1999) Genet Test. 3(2): 219-221.
  4. German, J et al., (2007) Hum Mut. 28(8):743-753.
  5. Ellis, N et al., (1998) Am J Hum Genet. 63:1685-1693.
  6. Ellis, N et al., (1995) Cell. 83:655-666.
  7. Ellis, N et al., (1994) Am J Hum Genet. 55:453-460.