Family Insight Solo (WES Based)
Family Insight WES Solo
Family-Based Whole Exome Sequencing | 3billion
An advanced genetic test designed for individuals from families facing reproductive challenges or suspected inherited disorders.
Uses Whole Exome Sequencing (WES) on a single unaffected individual (Solo), integrating clinical symptoms, family and reproductive history, and available partner information to investigate potential genetic causes and support future clinical and reproductive decisions.
Especially valuable when direct genetic testing of an affected individual, such as a deceased child or unavailable family member, is not possible.
👨👩👧👦 When to Consider This Test
- Recurrent Pregnancy Loss or Early Child Death: Investigating potential genetic causes of unexplained recurrent pregnancy loss or early child death.
- Affected Individual Unavailable: Evaluating potential inherited causes by testing an unaffected family member.
- Family History of Genetic Disorders: Assessing inherited risks in individuals with a family history of genetic conditions.
- Consanguinity: Evaluating suspected recessive genetic risks in consanguineous families.
🧬 Technical Specifications
| Specification Details | |
| Sequencing Technology | Whole Exome Sequencing (WES) |
| Number of Individuals Tested | One (Solo) |
| Test Subject | Unaffected Individual |
| Variant Types | SNV / Indel / CNV |
| CNV Detection | ≥3 consecutive exons |
| Analysis Approach | Integrated clinical symptoms, family history, and partner information |
| Variant Classification | Symptom-related Pathogenic (P), Likely Pathogenic (LP), or VUS |
| Genetic Reanalysis | Available upon request |
🔬 Key Clinical Benefits
- Identify Potential Genetic Causes: Investigates genetic variants associated with reproductive challenges and suspected inherited conditions.
- Support Family Planning: Provides genetic insights to help assess future reproductive risks.
- Reduce Diagnostic Uncertainty: Supports the investigation of complex familial cases when direct testing of an affected individual is unavailable.
- Reanalysis Upon Request: Enables reassessment of genetic data as scientific knowledge evolves.
➕ Optional Add-on: Carrier Status
Additional screening covering approximately 2,000 predefined genes and conditions.
- Male: Autosomal Recessive (AR) conditions.
- Female: Autosomal Recessive (AR) and X-linked conditions.
- Reports Pathogenic (P) and Likely Pathogenic (LP) variants only.
- Genetic reanalysis is not included in this add-on.
Important: Family Insight is not intended as general population carrier screening. It is designed for families with reproductive challenges or suspected inherited risks. A negative result does not exclude all genetic disorders.
SKU
3b_FI_WES_Solo