Description
Sample Collection is conducted at home by Licensed nurses. The collected samples are sent to Licensed and accredited laboratories for reporting.
Parameters Included:
Common Autosomal Trisomies
- Trisomy 21 (Down syndrome)
- Trisomy 18 (Edwards syndrome)
- Trisomy 13 (Patau syndrome)
Rare Autosomal Trisomies
- Trisomy 9
- Trisomy 16
- Trisomy 22
Sex Chromosome Aneuploidies
- XO (Turner syndrome)
- XXY (Klinefelter syndrome)
- XXX (Triple-X syndrome)
- XYY (Jacobs syndrome)
9/21/10 micro deletion/duplication, including:
- DiGeorge syndrome (22q11.2 deletion)
- 1p36 deletion syndrome
- Prader-Willi/ Angelman syndrome
- Smith-Magenis syndrome
- Cri-du-Chat syndrome
- 4p16.3 deletion syndrome
- Distal 18q deletion syndrome
- 18p deletion syndrome
- 9p deletion syndrome
- Jacobsen Syndrome
Incidental findings
- Other autosomal aneuploidies
- & ≥5Mb CNVs
Sex Indication
- Y chromosome detection
