MOLECULAR STUDY BLOOM SYNDROME (BLM) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4124

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	47 days
Information:
Bloom's syndrome (BS) is a rare human autosomal recessive disorder belonging to a group of 'chromosomal breakage syndromes''. BS is characterized by marked genetic instability, including a high level of sister chromatid exchanges, associated with a greatly increased predisposition to a wide range of cancers commonly affecting the general population. The constant clinical features of BS are proportionate pre- and postnatal growth retardation and cancer predisposition. BS arises through mutations in both copies of the BLM gene. In Ashkenazi Jewish population, the frequency of BS is approximately 1 in 48000. This is due to a founder effect, approximately 1% of the Ashkenazi Jewish population being heterozygous carriers for the blmAsh mutation.
Links:
OMIM Entry - # 210900 - BLOOM SYNDROME; BLM
Orphanet- Bloom syndrome
OMIM Entry - # 210900 - BLOOM SYNDROME; BLM
OMIM Entry - - 604610 - RECQ PROTEIN-LIKE 3; RECQL3

   Find the record of the test by clicking here