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Description
Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer. Bsyn is due to mutations of the BLM gene (15q26.1) which encodes the DNA helicase RecQl3, an enzyme involved in maintenance of genomic integrity. Such mutations lead to a spontaneous high level of sister chromatid exchanges due to a slowdown in replication speed and defective fork reactivation.
External Information
Click here for more information about the Bloom Syndrome - most mutations genetic test.Additional information
Samples | EDTA, LA, TB, VC |
---|---|
Method of testing | Sanger/NGS |
Turnaround Time (TAT) | 10 days |
Number of Genes | 1 |
Genes / Chromosomes / SNPs | BLM (most mutations) |
External Information | Click here for more information about the Bloom Syndrome - most mutations genetic test. |