Description
Description: Chromosome sequencing utilizes NGS-based low-coverage whole genome sequencing (WGS) to identify chromosomal abnormalities either before or during pregnancy. The test can be conducted on various sample types.
Indications:
- Individuals or couples seeking to confirm high-risk results from screening tests like Maternal Serum Screening (MSS) or Non-invasive Prenatal Testing (NIPT)
- Those who have experienced recurrent miscarriages or have a child affected by a genetic disorder
- Individuals or couples with abnormal ultrasound findings but negative CGH or SNP test results
- Anyone suspected of being part of a population at higher risk for chromosomal abnormalities, or those wishing to determine if a chromosomal issue contributed to a miscarriage.
Method
NGS
TAT
|
Test name |
Conditions screened: |
TAT (business days) |
|
Chromosome sequencing – 5-8Mb |
Deletions or duplications >5-8M |
10 |
|
Chromosome sequencing – 1Mb |
Deletions or duplications >1Mb |
21 |
|
Chromosome sequencing – 100Kb |
Deletions or duplications >100Kb |
21 |
Accepted Sample requirements
Abortion Tissue, Peripheral Blood, DNA, Amniotic Fluid and CVS.