GeneSAFE
The evolution of non invasive prenatal screening

The first non-invasive prenatal test that screens for single-gene disorders

A useful test

It can identify conditions that may not be associated with abnormal prenatal ultrasound findings and thus may go undetected until after birth

Early diagnosis of genetic disorders

It screens for several clinically significant and life-altering genetic disorders that are not screened for with current NIPT technology

An innovative test

It is the only NIPT that screens for genetic disorders associated with advanced paternal age

GeneSAFE

The evolution of non invasive prenatal screening

GeneSafe™ is the first non-invasive prenatal test that screens for both de novo and inherited single-gene disorders.

Current non-invasive prenatal tests screen for aneuploidies and microdeletions. PrenatalSafe® Karyo also screens for rare aneuploidies and segmental chromosome imbalances (gains and losses) in every chromosome in the fetal genome, providing karyotype-level insight.

GeneSafe™ goes further.

Through cfDNA analysis from maternal plasma, it screens for several clinically significant and life-altering genetic disorders that are not screened for with current NIPT technology.

Fetal DNA

GeneSafe
facilitates early diagnosis for single-gene disorders

SIMPLE

A simple blood sample (8-10 ml) collected at 10∧ weeks of gestation is required

SAFE

It is a non-invasive test, no risk for the fetus and the mother.

RELIABLE

Sensitivity and specificity > 99,9%
Falsi positivi < 0.1%

FAST

Turnaround time of just 10-15 days

GeneSafe™ involves 3 different levels of screening:


screens for 5 common inherited recessive genetic disorders

Read more


screens for 44 severe genetic disorders due to de novo mutations (a gene mutation that is not inherited)

Read more


screens for both inherited and de novo single-gene disorders, providing a more complete picture of the pregnancy risk.

Read more
GeneSAFE

The most comprehensive information available from a noninvasive prenatal test to date


GeneSafe™ works as a complementary screen to traditional or genome-wide NIPT (such as PrenatalSafe® Karyo), allowing a more complete picture of the risk of a pregnancy being affected by a genetic disorder.

Indication for testing

The first prenatal test suitable for any type of pregnancy

GeneSafe™ test is intended for patients who meet any of the following criteria:

• advanced paternal age (men that are >40 years old)
• abnormal ultrasound finding(s) suggestive of monogenic disorder
• couple carrier of mutations in one of the common inherited disorders
• patients wishing to avoid an invasive diagnostic procedure

The test is suitable for:
• both single and twin pregnancies
• patients whose pregnancies have been achieved by IVF techniques, including pregnancies with egg donation or surrogacy.

Results

Clear test results reporting

GeneSAFE™ Sample lab report

GeneSAFE
Maggiore serenità in gravidanza

Advantages

Advanced technology that ensures high reliability of the results

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:
10-15 days

Test available
worldwide

Personalized
genetic counseling

Over 200.00 genetic tests/year

Useful docs

for families and physicians
brochure medici
GENESAFE™ Brochure

Useful documents for GeneSAFE™ test

GeneSAFE Technical Report
GeneSAFE™ Technical Report
GeneSAFE Informed Consent
GeneSAFE™ Informed Consent
GeneSAFE Requisition Form
GeneSAFE™ Requisition Form
PrenatalSAFE Requisition Form
PrenatalSAFE® Requisition Form

GeneSAFE™ Sample lab report


GeneSAFE™ Inherited negative

GeneSAFE™ Inherited positive

GeneSAFE™ DENOVO negative

GeneSAFE™ DENOVO positive

GeneSAFE™ COMPLETE negative

GeneSAFE™ COMPLETE positive

How to order

A simple "step by step" procedure for ordering GeneSAFE™ test
GeneSAFE Procedure
GeneSAFE Kit

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.

I have read and agree the Privacy Policy  
SUBMIT

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.

Ask more information

If you want to ask us more information about GeneSafe™ test, please fill this form in order to submit your questions to our geneticists.

I have read and agree the Privacy Policy  
SUBMIT
EUROFINS Genoma Group © 2017 All rights reserved - P.Iva 05402921000
Informativa sulla Privacy / Cookie Policy
Powered by NDPLANET Web Agency