GeneSafe Inherited

screens for 5 common inherited recessive genetic disorders
genesafe inherited
screens for 5 common inherited recessive genetic disorders
GeneSafe™ Inherited screens for 5 common inherited recessive genetic disorders, such as Cystic Fibrosis, Thalassemia-Beta, Sickle cell anemia, Deafness autosomal recessive type 1A, Deafness autosomal recessive type 1B

The genes screened by GeneSafe™ Inherited and the related diseases are described in Table 1.

Table 1. Genes and genetic disorders screened by GeneSafe™ Inherited test.
GeneSafe™ is a test of

Genoma Group

Advanced molecular diagnostics solutions using state-of-the art technologies

Test performed in Italy (Rome or MIlan)

20 years experience in prenatal molecular diagnostics

ISO 17025 accredited laboratories

Dedicated
R&D team

Fast TAT:
10 days

Test available
worldwide

Personalized
genetic counseling

Over 200.00 genetic tests/year

How to order

A simple "step by step" procedure for ordering GeneSAFE™ test
procedura GneneSAFE

Ordering GeneSafe™ test is simple and fast



Please contact a member of our Customers Service team at +39068811270 for more information or fill in all required information into the following form.

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Bibliography

1. Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015;350:1262–6.
2. Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013;498:220–3.
3. Sifrim A, Hitz M-P, Wilsdon A, Breckpot J, Turki SH A, Thienpont B, et al. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nat Genet. 2016;48:1060–5.
4. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010;42:790–3.
5. Hoischen A, van Bon BWM, Rodríguez-Santiago B, Gilissen C, Vissers LELM, de Vries P, et al. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 2011;43:729–31.
6. Iossifov I, O’Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014;515:216–21.
7. O’Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet. 2011;43:585–9.
8. Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, et al. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217–21.
9. de Ligt J, Willemsen MH, van Bon BWM, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367:1921–9.
10. Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380:1674–82.
11. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010, 42:790–793.
12. Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 2010, 42:483–485.
13. Hoischen A, van Bon BW, Rodriguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB: De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet 2011, 43:729–731.
14. Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir AA, Wong WSW et al.: Rate of de novo mutations and the importance of father’s age to disease risk. Nature 2012, 488:471-475.
15. McRae J, et al.: Prevalence and architecture of de novo mutations in development disorders Nature 2017: 542:433-438.

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