CES + MGS – Rapid (Clinical Exome Sequencing + Mitochondrial Genome Sequencing)

Test Name

CES + MGS – Rapid (Clinical Exome Sequencing + Mitochondrial Genome Sequencing)

Home Collection, Lab Visit

Test Code

GEN0247

Test Components/ Genes/ Parameters

CES + MGS - Rapid

Sample Report

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Test Information

TAT DETAILS

15 Days

PRE-TEST INSTRUCTIONS

Clinical History of Patient

CLINICAL UTILITY

sequences disease-causing DNA variants within the 1% of the genome which codes for proteins (exons) + Mitochondrial genome

SPECIMEN STABILITY

METHODOLOGY

Next Generation Sequencing

STORAGE TEMPERATURE

SPECIMEN TYPE

Amniotic Fluid/ Chorionic Villus Sample/Peripheral Venous Blood/Cord blood,/Extracted DNA/Dry Blood Spot

Frequently Asked Questions

What is this Test?

identify the molecular basis of a genetic disorder in individuals with a genetically heterogeneous disease and/or an atypical presentation of a genetic disorder

What does it measure?

examine disease-causing DNA exons+ Mitochondrial genome

How to prepare yourself for the test?

When should you consider this test/ when this test is recommended?

Test Process/ how is the (test name) test performed?

Next Generation Sequencing

What are the risks of the (test name) test?

How to read the test report?/ What the results may indicate?

Pathogenic, Non Pathogenic, VOUS or Benign