| Purpose | BGI NOVA™ Newborn Genetic Screening: BGI’s NOVA™ Newborn Genetic Screening Test determines a baby’s risk for 246 genes associated with 112 genetic diseases, including 254 disease subtypes including genetic metabolic diseases, deafness, immune deficiency diseases, Neuromuscular diseases (e.g. Duchenne Muscular Dystrophy, Spinal Muscular Atrophy etc.), and blood disorders such as thalassemia (see the complete list of diseases in brochure).
 SUITABLE FOR:- Parents who want a comprehensive genetic screen for their baby.
- Babies who have missed out on regular screening
- Babies from parents with a family history of inherited disorders or from a population identified as at higher risk for genetic disease.
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| Test Code | DX0688
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| Turnaround Time (TAT) | 15 Days |
| Sample Tested | BGI NOVA™ Newborn Genetic Screening:- 3 Dried Blood Spots (8mm in diameter) or Blood in EDTA (>1 mL).
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| Methodology | - DNA Extraction and QC.
- Targeted Capture of 246 genes associated with 112 genetic diseases including 254 disease subtypes using chip capture method.
- Identification of pathogenic mutations in 246 genes using NGS.
- Reports having information for pathogenic mutations in baby and detecting a disease at an early stage can enable appropriate and timely medical intervention before more serious and sometimes irreversible health issues are caused.
- Genetic Counseling.
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| Advantages | BGI NOVA™ Newborn Genetic Screening:- Testing Scope: >10,000 pathogenic mutation sites including SNP, CNV, InDels (<20bp) and deletion/repetition of some gene exons reported in database of clinical gene detection of neonatal genetic diseases.
- Sequencing Depth: The effective sequencing depth of genome is >100x, the effective sequencing depth of mitochondria is >300x and coverage of the targeted area 20x is >95%. .
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