CNV-seq
NALEYA CNV-SEQ is a diagnostic test using low-coverage whole-genome sequencing to assess chromosome number and copy-number variations—deletions and duplications in chromosome segments. The CNV-Seq 100K option detects changes larger than 100 kb; the 1M option detects changes larger than 1 Mb.
Why consider CNV-Seq?
Testing should be considered following clinician assessment. Contact our team to confirm collection requirements.
Assess copy-number changes
Depending on the selected option, CNV-Seq detects deletions and duplications larger than 1 Mb (1M) or larger than 100 kb (100K).
No cell culture required
Testing does not require cell culture, making it an option for miscarriage tissue that is difficult to culture.
An option for limited samples
Low DNA requirements can make CNV-Seq suitable when sample material is limited. Our team will confirm whether the available sample meets testing requirements.
When testing may be considered
Pregnancy loss investigation
Testing miscarriage tissue or products of conception may help investigate a possible chromosomal cause of recurrent miscarriage or stillbirth. The 1M option may be considered in early recurrent pregnancy loss; a clinician selects the option for each case.
Prenatal diagnostic assessment
A clinician may consider diagnostic assessment after high-risk prenatal screening, including NIPT, ultrasound findings of fetal structural anomalies, a family history, or suspected chromosomal abnormality. The 100K option may be considered for high-risk prenatal or structural findings and later pregnancy loss. Chorionic villi may be suitable after laboratory confirmation.
Pediatric evaluation
Testing may help investigate possible chromosomal causes of developmental delay, intellectual disability, or multiple congenital anomalies.
In prenatal assessment, maternal age over 35 may be considered alongside other clinical findings, but does not by itself mean testing is needed.
Sample categories
- Miscarriage tissue / products of conception
- Amniotic fluid
- Cord blood
- Peripheral blood
- DNA
Chorionic villi may also be considered as a prenatal specimen, subject to laboratory suitability confirmation. Requirements depend on specimen and option. Confirm collection instructions with the team before collection or shipping.
Choose the appropriate analysis scope
Both options assess aneuploidy across autosomes and sex chromosomes—all 23 chromosome pairs—and detect copy-number gains and losses. The clinician selects an option according to the clinical question. Neither option detects every type of genetic abnormality.
| Feature | CNV-Seq 1M | CNV-Seq 100K |
|---|---|---|
| Chromosome scope | Aneuploidy across autosomes and sex chromosomes (all 23 pairs) | Aneuploidy across autosomes and sex chromosomes (all 23 pairs) |
| Copy-number changes | Deletions and duplications larger than 1 Mb | Deletions and duplications larger than 100 kb |
How CNV-Seq compares
| Feature | Karyotyping | Chromosomal microarray (CMA) | CNV-Seq |
|---|---|---|---|
| Method | Chromosome examination | Microarray | Low-coverage whole-genome sequencing |
| Main focus | Chromosome number and large structural changes | Genomic copy-number gains and losses | Aneuploidy plus copy-number gains and losses |
| Cell culture | May be required | DNA-based | DNA-based |
| Resolution | Large changes | Platform-dependent | Option-dependent: larger than 1 Mb or larger than 100 kb |
These methods answer different clinical questions and are not interchangeable. A clinician can advise which test is appropriate.
Your testing journey
Before testing
Discuss the clinical question with a clinician, receive pre-test genetic counselling, and provide informed consent.
Collect and send the sample
Arrange the appropriate specimen and ship it by following the laboratory’s instructions.
Laboratory analysis
The laboratory performs sequencing and copy-number analysis using the selected option.
Discuss results
Review results with the clinician and receive post-test genetic counselling. Ask the team to confirm the expected reporting schedule for the chosen service.
Common questions
Is CNV-Seq the same as NIPT?
No. CNV-Seq is a diagnostic assessment, while NIPT screens for risk. A high-risk screening result is not a diagnosis; a clinician determines appropriate diagnostic testing and specimen.
Which option is right for me?
The options have different copy-number detection thresholds: 1M detects changes larger than 1 Mb, and 100K detects changes larger than 100 kb. Your clinician selects an option based on the clinical question.