Carrier screening - Gold [500 genes NGS]

Carrier Screening - Gold is a comprehensive next-generation sequencing (NGS) panel that analyzes 500 genes to detect carrier status for a wide range of autosomal recessive and X‑linked conditions, providing a precise reproductive risk assessment for prospective parents. The service includes convenient at‑home sample collection, laboratory-based analysis, and a clinician-friendly report with clear risk estimates and personalized genetic counseling tailored for families in Dubai and across the UAE. Results are delivered with guidance on follow-up testing, prenatal options and local referral pathways so couples — especially those with a family history of genetic disease or consanguineous partnerships — can make informed family‑planning decisions.

• Pathogenic & likely pathogenic SNVs and small indels across 500 genes (NGS)
• Exon‑level copy number variants (CNVs) in targeted genes
• SMN1 gene copy‑number analysis (spinal muscular atrophy)
• FMR1 CGG repeat sizing for Fragile X carrier status
• Autosomal recessive and X‑linked carrier calls with UAE‑relevant interpretation and counseling

• Comprehensive NGS analysis of 500 recessive and X‑linked genes for thorough carrier detection
• Convenient at‑home saliva/cheek‑swab collection with sample pickup options across Dubai
• Clear reproductive risk report with partner‑matching guidance and recommended follow‑up testing
• Personalised post‑test genetic counseling in English and Arabic with local referral support in the UAE
• Secure delivery of clinically interpreted results from an accredited diagnostic genetics laboratory

• Comprehensive NGS analysis of 500 clinically relevant genes to detect autosomal recessive and X‑linked carrier status
• At‑home saliva/buccal collection kit with UAE-wide courier pickup and easy sample return across Dubai and the Emirates
• High-depth sequencing with expert variant interpretation and clear report highlighting pathogenic and likely pathogenic findings plus reproductive risk estimates
• Includes one-on-one genetic counseling and tailored reproductive guidance, with recommendations for partner testing when indicated
• Secure online results portal with actionable next steps aligned to preconception planning and family health needs in Dubai/UAE

• 500-gene NGS panel screening for common and rare autosomal recessive and X‑linked conditions
• At‑home saliva/buccal sample collection with secure UAE courier transfer to an accredited laboratory
• Clinical-grade NGS reporting including single nucleotide variant and copy number variation analysis, typical turnaround 10–21 business days
• Personalised reproductive risk estimates with follow‑up genetic counselling in English and Arabic and confidential UAE‑compliant results