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.

NGS

Abortion Tissue, Peripheral Blood, DNA, Amniotic Fluid and CVS.

High resolution chromosome analysis requires the use of elongation methods to obtain a high percentage of prophase and prometaphase spreads. The chromosomes are less condensed than in routine metaphase analysis, and the number of identifiable bands is expanded, allowing a more sensitive analysis of the karyotype. This type of study is required for the detection of subtle chromosome rearrangements, and it is considered an important component in the diagnosis of microdeletion syndromes such as Prader-Willi syndrome, Angelman syndrome, Smith-Magenis syndrome, and Miller-Dieker syndrome.

3 days

Heparin blood

trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes X/Y.
The trisomy screen can be used as a rapid initial screen for some of the more common aneuploidies. FISH should be used in conjunction with G-banded chromosome analysis.

3 days

Heparin blood

trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 13.
The trisomy screen can be used as a rapid initial screen for some of the more common aneuploidies. FISH should be used in conjunction with G-banded chromosome analysis.

3 days

Heparin blood

trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 18.
The trisomy screen can be used as a rapid initial screen for some of the more common aneuploidies. FISH should be used in conjunction with G-banded chromosome analysis.

3 days

Heparin blood

trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 21.
The trisomy screen can be used as a rapid initial screen for some of the more common aneuploidies. FISH should be used in conjunction with G-banded chromosome analysis.

3 days

Heparin blood