Considering the cost of expanded carrier screening panels

Genetics in Medicine

Volumn 15, Issue 4, 2013, Pages 318-319

  Stoll, Katie ^a   Resta, Robert ^b  

^a Madigan Healthcare System   (United States)

^b SWEDISH MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ALPHA 1 ANTITRYPSIN DEFICIENCY; BETA THALASSEMIA; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CYSTIC FIBROSIS; FAMILIAL MEDITERRANEAN FEVER; GENE FREQUENCY; GENETIC SCREENING; HEALTH CARE COST; HEARING IMPAIRMENT; HETEROZYGOTE DETECTION; HUMAN; LETTER; ONSET AGE; PSYCHOSOCIAL CARE; SICKLE CELL ANEMIA; SPINAL MUSCULAR ATROPHY; TAY SACHS DISEASE;

EID: 84875965587     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.18     Document Type: Letter

References (4)

1. Vassos E, Collier DA, Holden S, et al. Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet 2010;19:3477-3481.
2. Girirajan S, Rosenfeld JA, Coe B P, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 2012;367:1321-1331.
3. Harper PS. Practical Genetic Counselling, 6th ed. Arnold: London, 2004.
4. Lazarin GA, Haque IS, Nazareth S, et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23, 453 individuals. Genet Med 2012; e-pub ahead of print 13 September 2012.