|
Test Name
|
Region of Analysis
|
|
|
Screens for aneuploidies of chromosomes 21, 18, 13 and includes determination of fetal sex (optional).
|
|
|
Screens for aneuploidies of chromosomes 21, 18, 13, sex chromosomes (X and Y) and includes determination of fetal sex. (optional).
|
|
+ DiGeorge
|
Screens for aneuploidies of chromosomes 21, 18, 13, sex chromosomes (X and Y) and includes determination of fetal sex. (optional). Scans the trisomy of chromosomes 9 and 16. Detects the presence of microdeletion syndrome: 22Q11.2- DIGEORGE SYNDROME
|
|
|
Screens for aneuploidies of chromosomes 21, 18, 13 and sex chromosomes, as well as trisomy of chromosomes 9 and 16. The test also detects the presence of the 6 most common microdeletion syndromes. (22Q11.2 SYNDROME (DIGEORGE SYNDROME, VELOCARDIALFACIAL) 1P36 DELESION SYNDROME ANGELMAN'S SYNDROME (15Q11.2) PRADER-WILLI SYNDROME (15Q11.2) CRI DU CHAT SYNDROME (5P) WOLF-HIRSCHHORN SYNDROME (4P 9' and 16K)
|
|
|
It screens for aneuploidies and structural chromosomal changes (segmental deletions and duplications) of each chromosome.
|
|
|
Screens numerical and structural anomalies in all chromosomes and 9 microdeletions; 22Q11.2 SYNDROME (DIGEORGE SYNDROME, VELOCARDIALFACIAL) 1P36 DELESION SYNDROME ANGELMAN'S SYNDROME (15Q11.2) PRADER-WILLI SYNDROME (15Q11.2) CRI DU CHAT SYNDROME (5P) WOLF-HIRSCHHORN SYNDROMUE (11Q11. 3 DELETION) LANGER-GIEDION SYNDROME (8Q24.11-Q24.13 DELETION) SMİTH-MAGENIS SYNDROME (17P11.2 DELETION)
|
|
|
It is the first non-invasive prenatal test to screen for both de-novo and inherited single gene disorders.
25 Gene Screening: Skeleton dysplasia, congenital heart defect, multiple congenital malformation syndromes, autism, epilepsy, mental disability, such as neurodevelopment disorders such as Schinzel-Gedion syndrome and Bohring-opitz syndrome, such as rare autosomal dominant mendelian disorders such as de novo mutation disorders. Performs screening of severe genetic diseases caused by gene mutations.
|
|
|
It is the first non-invasive prenatal test to screen for both de-novo and inherited single gene disorders.
5 Recessive Disease Screening
CYSTIC FIBROSIS; GEN CFTR
AUTOSOMAL RECESSIVE HEARING LOSS- TYPE1A; GEN CX26 (GJB2)
AUTOSOMAL RECESSIVE HEARING LOSS- TYPE1B; GEN CX30 (GJB6)
BETA thalassemia; GENE HBB
SICKLE CELL ANEMIA; GENE HBB
|
|
|
GENESAFE DE NOVO + GENESAFE INHERITED
|
|
|
NIPT KARYO + GENESAFE COMPLETE
|
|
|
NIPT KARYO PLUS + GENESAFE COMPLETE
|