DISEASE LIST

ChromoMap NIPS screens for aneuploidies and microdeletions that can significantly impact a child’s health and quality of life or cause adverse pregnancy outcomes.


Standard Panel

The standard panel screens for three trisomies. A trisomy is an extra copy of an entire chromosome.

  • Trisomy 21 (Down Syndrome)
  • Trisomy 13 (Patau Syndrome)
  • Trisomy 18 (Edwards Syndrome)

Optional Add-Ons*

Sex Chromosome Aneuploidies

Sex aneuploidies are missing or extra copies of the sex chromosomes, X and Y.

  • Monosomy X (Turner Syndrome)
  • XXX (Triple X Syndrome)
  • XXY (Klinefelter Syndrome)
  • XYY (Jacob Syndrome)

All Other Autosomal Aneuploidies

Microdeletions

A microdeletion is a change in which a small segment of genetic material is missing from a specific chromosome.

  • 22q11.2 (DiGeorge syndrome, Velocardiofacial Syndrome)
  • 1p36 Deletion Syndrome
  • 15q11.2 (Angelman/Prader Willi Syndrome)
  • 5p- (Cri du Chat Syndrome)
  • 4p- (Wolf-Hirschhorn Syndrome)

*Add-on panels available for singleton pregnancies only.

If sex aneuploidies are screened for, the fetal sex will be identified.

ChromoMap NIPS is a screening test. Diagnostic tests such as amniocentesis or CVS are available to confirm results. However, because these tests are invasive, they carry a risk of complications, including miscarriage.

DISEASE LIST

Serenity NIPT screens for abnormalities that can significantly impact a child’s health and quality of life or cause adverse pregnancy outcomes.

Serenity testing is offered as Serenity Basic or Serenity Plus, providing options to accommodate every patient’s unique situation.

Serenity BasicSerenity Plus

Screens for the following:

checkmark Common Trisomies

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)

checkmark Sex Aneuploidies (optional)

  • Monosomy X (Turner syndrome)
  • XXX (Triple X syndrome)
  • XXY (Klinefelter syndrome)
  • XYY (Jacob syndrome)
  • Fetal Sex Determination

Screens for Serenity Basic conditions plus*:

checkmark Microdeletions

  • 22q11.2 (DiGeorge syndrome, Velocardiofacial syndrome)
  • 1p36 Deletion syndrome
  • 15q11.2 (Angelman/Prader Willi syndrome)
  • 5p- (Cri du Chat syndrome)
  • 4p- (Wolf-Hirschhorn syndrome)

checkmark Additional Trisomies

  • All other autosomal aneuploidies