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GeneSafe

£755.00£995.00

The first non-invasive prenatal test that screens multiple genes for mutations causing severe genetic disorders in the foetus.

3 Test options available:

GeneSafe Inherited -Allows detection of common inherited disorders within the foetus.
GeneSafe De Novo -This test screens for 46 severe genetic disorders due to de novo mutations (a gene mutation that is not inherited) in 25 genes.

GeneSafe – Complete – Combines Inherited and De Novo

  • Available from 10 weeks of pregnancy
  • 10ml blood sample required from expectant mother and father
  • Results available within 15 working days of sample arriving in lab

Genes screened:

Inherited: CFTR, CX26 (GJB2), CX30 (GJB6), HBB

De Novo: ASXL1, BRAF, CBL, CHD7, COL1A1, COL1A2 , COL2A1, FGFR2, FGFR3, HDAC8, JAG1, KRAS, MAP2K1, MAP2K2, MECP2, NIPBL, NRAS, NSD1, PTPN11, RAF1, RIT1, SETBP1, SHOC2, SIX3, SOS1

Description

GeneSafe works as a complementary screen to traditional and genome-wide NIPT PrenatalSafe KARYO. GeneSafe screens for several life-altering genetic disorders that are not screened with current NIPT technology, allowing for a more complete picture of the risk of a pregnancy being affected by a genetic disorder.

GeneSafe Inherited

Allows detection of common inherited disorders within the foetus.

This test screens for 5 common inherited recessive genetic disorders, such as Cystic Fibrosis, Thalassemia-Beta, Sickle cell anaemia, Deafness autosomal recessive type 1A, Deafness autosomal recessive type 1B.

Genes screened: CFTR, CX26 (GJB2), CX30 (GJB6), HBB

GeneSafe De Novo

This test screens for 46 severe genetic disorders due to de novo mutations (a gene mutation that is not inherited) in 25 genes.

Many disorders screened with GeneSafe De Novo are not typically associated with abnormal prenatal ultrasound findings (especially in the first trimester), or may not be evident until late second/third trimester, when confirmatory invasive testing can pose a risk of pre-term birth, or baby’s health after delivery.

Genes screened: ASXL1, BRAF, CBL, CHD7, COL1A1, COL1A2 , COL2A1, FGFR2, FGFR3, HDAC8, JAG1, KRAS, MAP2K1, MAP2K2, MECP2, NIPBL, NRAS, NSD1, PTPN11, RAF1, RIT1, SETBP1, SHOC2, SIX3, SOS1

Click here to download a brochure relating the test.

GeneSafe facilitates early diagnosis of single-gene disorders.

All pregnant women regardless of age are at equal risk of the genetic conditions screened by GeneSafe. Although the occurrence of each disorder is relatively rare, the cumulative rate of these conditions (~1 to 600) is similar to that of Downs Syndrome, in younger women.

 

Sample collection options:

You will need to use a ‘private phlebotomy service’ to have your blood drawn (there will be a small charge for this) – a Google search will help you locate your nearest service. Some GP practices offer phlebotomy services however this varies regionally.

This test provider also offer free genetic counselling via a telephone consultation for all high risk test results.

We always recommend that you discuss your results with your Healthcare Professional

Test Options

GeneSafe Inherited – £755

GeneSafe De Novo – £755

GeneSafe Complete (Inherited and De Novo) – £995

Results available from 15 working days from the sample arriving in the lab

Additional information

FREE

Follow-up of abnormal results
CVS or Amniocentesis in collaboration with reference gynaecologists
Pre and Post-test genetic counselling

Tests Available:

GeneSafe Inherited, GeneSafe De Novo, GeneSafe Complete

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