DNA Collection

Bood or Saliva sample collected in-office with our sample collection kit

Turn-around Time

14 days

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References:
1. Prior TW. Carrier screening for spinal muscular atrophy. Professional Practice and Guidelines Committee. Genet Med. 2008 Nov; 10(11):840-842.
2. Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012 Jan; 20(1): 27-32.
3. Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet. 1978; 15:409-413.
4. Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat. 2000; 15(3):228-37.
5. Prior TW, Russman BS. Spinal Muscular Atrophy. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 2000 Feb 24 [updated 2013 Nov 14].
6. Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol. 1993;3(2):49-51.
7. Prior TW. Spinal muscular atrophy diagnostics. J Child Neurol. 2007 Aug; 22(8):952-6.
8. Zerres K, Rudnik-Schöneborn S, Forrest E, et al. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. 1997 Feb 27; 146(1): 67-72.
9. D’Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011 Nov 2; 6:71.
10. Prior TW, Nagan N, Sugarman EA, et al. Technical standards and guidelines for spinal muscular atrophy testing. Genet Med. 2011 Jul; 13(7): 686-94.
11. Hendrickson BC, Donohoe C, Akmaev VR, et al. Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet. 2009 Sep; 46(9):641-4.