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Non-Invasive Analysis of Fetal DNA for Prenatal Screening

  • Test For:

    More than 152 types of chromosomal aneuploidies

  • Sample type:

    10mL blood

  • Turnaround time:

    About 5 working days


Standard Panel Testing Items

The test screens for 14 validated conditions. In alignment with international guidelines1, this panel is the recommended choice for most mothers.

Trisomies

A trisomy is a chromosomal condition characterised by an additional chromosome. The disorders below are the most common forms of trisomy.

  • Trisomy 13

    Patau Syndrome, also known as Trisomy 13, can lead to serious birth defects and severe intellectual disability. Patient with Patau syndrome has life expectancy of less than 1 year.

  • Trisomy 18

    Edwards Syndrome, also known as Trisomy 18, can cause severe birth defects of heart, brain, and other organs, as well as severe intellectual disability. Patient with Edwards syndrome has life expectancy of less than 1 year.

  • Trisomy 21

    Down Syndrome, also known as Trisomy 21, can lead to birth defects of the heart or other organs, such as hearing and vision problems.

Sex Chromosomes Aneuploidies

The presence sex chromosomes determine the gender of your babies, XX for female and XY for male. The sex chromosomes occur in abnormal numbers can lead to severe health issues.

  • Turner Syndrome

    Monosomy X, also known as Turner Syndrome, is a condition that only affects female. It can cause a variety of medical and developmental problems, including heart defects, learning disabilities and short height.

  • Jacob's Syndrome

    XYY syndrome, also known as Jacob’s Syndrome, is a genetic condition in which a male has an extra Y chromosome. Symptoms include hypotonia, delayed development and behavioural problem etc.

  • Klinefelter Syndrome

    Klinefelter Syndrome is characterized by the presence of an extra X chromosome in the cells of a male. The primary features are infertility and impaired development of the sexual organs.

  • Triple X Syndrome

    Triple X syndrome, also known as trisomy X is a genetic disorder in female that results from the presence of an extra X chromosome in the cells. Symptoms include learning disabilities and infertility.

Microdeletion Syndromes

Microdeletion occurs when a small segment of the chromosome is deleted or duplicated. It can only be detected by advanced technology with high resolution.

  • 1p36 Deletion Syndrome

    1p36 Deletion Syndrome is a congenital genetic disorder that affects intellectual and behavioural developments, as well as heart abnormalities.

  • 2q33.1 Deletion Syndrome

    2q33.1 deletion syndrome is a rare chromosomal disease with a highly variable phenotype typically characterized by significant feeding difficulties, delayed growth, cleft palate, and behavioural issues.

  • Angelman Syndrome

    15q11.2 Deletion Syndrome, also known as Angelman Syndrome, can lead to delayed growth, severe intellectual disability, and speech impairment.

  • Cri-du-chat Syndrome

    5p deletion, also known as Cri-du-chat Syndrome, is a chromosomal condition that causes feeding and breathing difficulties, smaller head size, low birth weight, and hypotonia in infancy.

  • DiGeorge Syndrome

    22q11.2 Deletion Syndrome, also known as DiGeorge Syndrome, can affect the heart, immune system, and kidney of the infant. Patient may also suffer from feeding difficulties, epilepsy, and mild to moderate intellectual disability.

  • Langer-Giedion Syndrome

    8q24.1 Deletion Syndrome, also known as Langer-Giedion Syndrome, is an uncommon genetic disorder with characteristic craniofacial appearance includes a bulbous nose, an elongated upper lip, a long philtrum and sparse hair.

  • Prader-Willi Syndrome

    15q11.2 Deletion Syndrome, also known as Prader-Willi Syndrome, is a genetic disorder that can increase the risk of obesity and hypotonia in childhood.

Advanced Panel Testing Item

The test screens for chromosomal aneuploidies of all 23 pairs of chromosomes, including trisomies and at least 126 microdeletions/ microduplications with size greater than 3Mb that has recorded on the international databases: OMIM, Decipher and Orphanet.

Trisomies

A trisomy is a chromosomal condition characterised by an additional chromosome. Advanced panel screens for trisomies of all chromosome.

Sex Chromosomes Aneuploidies

The presence sex chromosomes determine the gender of your babies, XX for female and XY for male. The sex chromosomes occur in abnormal numbers can lead to severe health issues.

Microdeletion Syndromes

Microdeletion occurs when a small segment of the chromosome is deleted or duplicated. Advanced panel screens for at least 126 microdeletions/ microduplications. To view the full panel, please contact us.