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3199del6 in Medical Products

Cystic Fibrosis 3199del6 Only(ARUP Medical Director or Genetic Counselor approval required prior to testing)

Description: ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative laboratory research and development. ARUP offers an extensive test menu of highly complex and unique medical tests in clinical and anatomic pathology. Owned by the University of Utah, ARUP Laboratories' client...
Company:ARUP Laboratories
3199del6 in other areas

Cystic Fibrosis 3199del6 Only (ARUP Medical Director or Genetic ...

This test is specific for the cystic fibrosis (CF) 3199del6 mutation. ... Those with I148T who are affected with CF also have 3199del6 in cis. ...

BioMed Central | Full text | Are p.I148T, p.R74W and p.D1270N cystic ...

Mutation c.3199del6 was found to be carried without p.I148T in a young CF male ... Mutation c.3199del6 was initially described by us in 1994 in this patient as c. ...

BMC Medical Genetics

showed that a second mutation (c.3199del6 or the novel ... Mutation c.3199del6 can also occur alone as a CF-causing. allele. Mutation c.3199del6 was found to ...

Cystic fibrosis prenatal screening in genetic counseling practice ...

I148T in the absence of 3199del6 appears to be a polymorphism, given its ... removal of I148T from the ACMG panel because 3199del6 is the pathogenic finding. ...

March_2002

the 3199del6 in 90 specimens that had ... Reflex Testing for 3199del6 at Mayo. Molecular CF testing was initiated ... the 3199del6 mutation is not identified) ...

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

PubMed is a service of the U.S. National Library of Medicine that includes over 16 million citations from MEDLINE and ... of the 3199del6 cystic fibrosis ...
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