CES Trio (Clinical Exome Sequencing)
Test Name
CES Trio (Clinical Exome Sequencing)
Home Collection, Lab Visit
Test Code
GEN0221
Test Components/ Genes/ Parameters
Clinical Exome sequencing
Sample Report
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Test Information
TAT DETAILS
21 Days
PRE-TEST INSTRUCTIONS
Clinical History of Patient
CLINICAL UTILITY
Sequencing the exome of an individual (proband) and their biological parents (trio) to identify genetic disorders.
SPECIMEN STABILITY
NA
METHODOLOGY
Next Generation Sequencing
STORAGE TEMPERATURE
NA
SPECIMEN TYPE
Amniotic Fluid/ Chorionic Villus Sample/Peripheral Venous Blood/Cord blood,/Extracted DNA/Dry Blood Spot
Frequently Asked Questions
identify the molecular basis of a genetic disorder in individuals with a genetically heterogeneous disease and/or an atypical presentation of a genetic disorder
provides better coverage of disease associated genes including coding variants, splice variants, reported deep intronic variants and CNV
Next Generation Sequencing
Pathogenic, Non Pathogenic, VOUS or Benign