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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
Pathogenic, Non Pathogenic, VOUS or Benign