Placenta Safe™ Gene De novo

The test is designed to screen fetuses for 44 autosomal dominant and certain de novo monogenic (single-gene caused) diseases. Conducting a monogenic disease test is especially relevant if there have been inherited monogenic diseases in the family. Additionally, this test is particularly important for older couples, regardless of whether there have been inherited diseases in the family, as conceiving at an older age (applicable to both mother's and father's age) increases the likelihood of de novo monogenic diseases. The following monogenic diseases are screened: Achondroplasia (gene FGFR3); Hypochondroplasia (genes FGFR3, FGFR2); Achondrogenesis, type II (gene COL2A1); CATSHL syndrome: camptodactyly, tall stature, congenital scoliosis, deafness (gene FGFR3); LEOPARD syndrome, type I: lentigines, congenital heart conduction defects, congenital orbital development defect (hypertelorism), pulmonary stenosis, congenital genital anomalies, delayed growth, neurosensory deafness (gene PTPN11); Noonan (Noonan syndrome): types I, IV, V, VIII and Noonan-like syndromes (genes: PTPN11, SOS1, RAF1, BRAF, CBL, KRAS, MAP2, MAP2K2, NRAS, RIT1, SHOC2); Juvenile myelomonocytic leukemia (genes PTPN11, CBL); Cardiofaciocutaneous syndrome: types I, III, VI (genes: BRAF, MAP2K1, MAP2K2); Rett syndrome (gene MECP2); Alagille syndrome (gene JAG1); CHARGE syndrome: coloboma, heart defects, choanal atresia, delayed growth and/or development, genital hypoplasia, ear formation defects (gene CHD7); Cornelia de Lange syndrome, types V and I (genes HDAC8 and NIPBL); Sotos syndrome, type I (gene NSD1); Bohring-Opitz syndrome (gene ASXL1); Schinzel-Giedion syndrome (gene SETBP1); Antley-Bixler syndrome, type II (gene FGFR2); Apert syndrome (gene FGFR2); Jackson-Weiss syndrome (gene FGFR2); Pfeiffer syndrome: types I, II, and III (gene FGFR2); Muenke syndrome: coronal craniosynostosis (gene FGFR3); Thanatophoric dysplasia: types I and II (gene FGFR3); Ehlers-Danlos syndrome (genes COL1A1 and COL1A2); Crouzon disease with acanthosis nigricans (gene FGFR3); Osteogenesis imperfecta: types I, II, III, and IV (genes COL1A1 and COL1A2). This test is performed in an advanced laboratory in Rome, Italy from a venous blood sample.

Recommendation for when to perform the test: Single and twin pregnancies - from 10 weeks of gestation.

Sample: blood.

Processing time after laboratory receipt: 10 - 20 business days.