PrenatalSafe Complete PLUS (Includes De Novo)

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PrenatalSafe Complete PLUS (Includes De Novo) - Bookabloodtest.com
Regular price £1,075.00
Regular price Sale price £1,075.00
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What's Included?

Prenatalsafe Karyo Plus and Genesafe Complete.

  • Inherited gene disorders;
  • Cystic Fibrosis
  • Deafness autosomal recessive type 1A
  • Deafness autosomal recessive type 1B
  • Thalassemia-Beta
  • Sickle cell anaemia
  • Non-Inherited (De Novo);
  • 25 genes screened for 44 different genetic disorders
  • Deletions and Duplications in any chromosome. These are missing or gained pieces of chromosomes (>7Mb)
  • Gender Determination (optional) 

9 different Microdeletion syndromes:

  • 1p36 (1p36 deletion syndrome)
  • 4p- (Wolf-Hirschhorn syndrome)
  • 5p-(Cri-du-Chat syndrome)
  • 15q11.2 (Prader-Willi / Angelman syndrome)
  • 22q11.2 (DiGeorge syndrome)
  • q24 (Langer-Giedion syndrome)
  • 1q23 (Jacobsen syndrome)
  • 17p11.2 (Smith-Magenis syndrome)

Prenatalsafe Complete Plus is composed of two screens: Prenatalsafe Karyo Plus and Genesafe Complete. Please note this test includes 9 Microdeletion Syndromes. It is combined with the additional Genesafe Complete screen for Inherited and Non-Inherited (De Novo) features that can identify conditions which may have otherwise gone undetected until after the baby’s birth. 

Inherited gene disorders include;

  • Cystic Fibrosis
  • Deafness autosomal recessive type 1A
  • Deafness autosomal recessive type 1B
  • Thalassemia-Beta
  • Sickle cell anaemia

Family history may not be a good indicator of risk for these conditions, which are commonly caused by Non- Inherited (De Novo) genetic mutations in 25 genes screens for 44 different genetic disorders. These include Syndromic disorders, Noonan syndromes, Skeletal disorders and Craniosynostosis syndromes. (See Below) 

The five Mutations in these 25 genes cause skeletal dysplasia, congenital heart defects, multiple congenital malformation syndromes, multiple congenital anomalies, autism, epilepsy, and intellectual disability.

This test Includes analysis of all 24 chromosomes for the most common conditions and rarer Trisomy’s 1-22 and all 9 microdeletion syndromes chromosomal deletions and duplications for clinically significant syndromes.

Offering a genetic screen in 4 genes for 5 inherited conditions including;

  • Cystic Fibrosis CFTR
  • Beta Thalassemia HBB
  • Sickle Cell Anaemia HBB
  • Autosomnal Recessive Deafness Type 1 A
  • Autosomnal Recessive Deafness Type 1 B

Taken from 10 weeks it is suitable for single and *twin pregnancies, Gender determination is available. *Only the presence or absence of the Y chromosome can be reported in twins.