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GTR Home > Tests > ETHE1 - NGS including CNV analysis


Test name


ETHE1 - NGS including CNV analysis

Purpose of the test


This is a clinical test intended for Help: Diagnosis



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Click Indication tab for more information.

How to order


Order URL Help: https://www.centogene.com/diagnostics/how-to-order

Specimen source

Amniotic fluid
Bone marrow
Buccal swab
Cell culture
Chorionic villi
Dried blood spot (DBS) card
Fetal blood
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Not provided

Clinical validity


This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.


Not provided

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Result interpretation
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C4 and C5 +/- Other Acylcarnitines, Glutaric Acidemia II (GA-II) (MADD), 2022
  • ACMG Algorithm,
    American College of Medical Genetics and Genomics, Algorithm, Glutaric Acidemia II (GA-II)/ MADD, Riboflavin Metabolism Disorder, Ethylmalonic Encephalopathy: C4 and C5 elevated +/- other elevated acylcarnitines (AC), 2022
  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C4 Acylcarnitine, Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, 2022

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.