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Indications:
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Suspected specific genetically heterogeneous phenotype
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Only genes with a moderate gene-disease sensitivity are included in panels
Available as:
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Single/ Duo/ Trio Analysis
Acceptable Samples:
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Whole blood EDTA
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Dried Blood Spot (DBSs)
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Extracted DNA
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Chorionic Villus Sampling/Biopsy (CVS)
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Amniotic Fluid (AF)
- •CNV calling is validated for multi-exon CNV (≥/ 3)
- •Confirmation of detected CNVs by an alternate method is recommended
- •Sequencing included coding region with +/- 10 bp are included
PRENATAL NGS
▶Whole exome sequencing with CNV calling on amniotic fluid / chorionic villus sampling
▶Mitochondrial Genome sequencing is NOT PERFORMED.
▶Available as Trio (Parents + Fetus) or Duo (Previous affected + Fetus) or Singleton analysis
Indications:
Family history of a known genetic disorder
- ▶Copy of the diagnostic test reports, which confirmed the genetic disorder in a mandatory
- ▶In the absence of any confirmed etiology, prenatal testing is not mandatory
Antenatal detection of fetal malformations
- ▶Trio sequencing is ideally recommended
- ▶Chromosomal microarray is the recommended first line of testing
Pre-requisite:
Maternal Cell Contamination testing (MCC) is MANDATORY
Certified & Accredited
Accreditations
9007683
34D2205781