Next-Generation Sequencing (NGS)

Oncology (Somatic & Germline):
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• Solid tumor profiling for treatment planning
• Hematologic malignancies (e.g., leukemia gene panels)
• Identification of actionable or drug-targetable mutations
• Hereditary cancer risk evaluation (e.g., BRCA1/2, Lynch syndrome)

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Hereditary & Familial Disorders:
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• Carrier screening for autosomal recessive or X-linked conditions
• Family history of a known genetic disorder
• Consanguineous families or couples planning pregnancy or experiencing recurrent pregnancy loss
• Confirmation of clinical diagnoses with genetic basis

Rare and Undiagnosed Diseases:
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• Unexplained developmental delay, intellectual disability
• Epilepsy, neurometabolic, skeletal, and mitochondrial disorders
• Congenital anomalies or syndromic presentations
• Pediatric cases with complex or overlapping features

Labassure’s NGS platforms are designed to detect:
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• Single Nucleotide Variants (SNVs) and small indels
• Heterozygous and homozygous mutations
• Compound heterozygosity in autosomal recessive genes
• Copy Number Variations (CNVs) (in certain panels/WES)
• Gene fusions and large-scale deletions/duplications (optional with RNA-seq/FISH follow-up)
• Zygosity and inheritance pattern assessment
• Coverage statistics and variant classification per ACMG guidelines

Postnatal Samples
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• Peripheral Blood (Preferred)
  • Volume: 3–5 ml
  • Container: EDTA (purple-top) vacutainer
  • Transport: Room temperature; deliver within 24–48 hours
  • Important: Do not freeze or delay transport

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• Alternate Specimens (with prior approval):
  • Saliva (via collection kit)
  • Tissue (fresh/frozen, FFPE)
  • DNA extract (minimum quantity and quality required)
  • Tumor tissue blocks for somatic NGS (with H&E confirmation)
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• Prenatal Sample
  
  • Amniotic Fluid (15-20ml)
  • Chorionic Villi
  • Maternal Blood (3ml EDTA) for MCC