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GTR Home > Tests > Congenital disorder of glycosylation, type II h (COG8)

Overview

Test order codeHelp: Congenital disorder of glycosylation, type II h

Test name

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Congenital disorder of glycosylation, type II h (COG8) (CDG IIh)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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How to order

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Information and request forms can be found at the website.
Order URL Help: http://www.labgmd.nl/

Specimen source

Amniocytes
Cell culture
Chorionic villi
Cord blood
Fibroblasts
Frozen tissue
Isolated DNA
Peripheral (whole) blood
White blood cell prep

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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.