GTR Home > Tests > Megaloblastic anemia type 1


Test order codeHelp: 103

Test name


Megaloblastic anemia type 1

Purpose of the test


This is a clinical test intended for Help: Diagnosis



1 condition tested. Click Indication tab for more information.


Molecular Genetics
DDeletion/duplication analysis
PCR with allele specific hybridization
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.


Clinical validity


This gene test will provide the likelihood of clinical outcome for tested individuals, and it is primarily determined by the quality of clinical features used to select affected individuals suggested for genetic testing. The likelihood of clinical outcome is affected not only by the presence of the gene mutation itself but also by any other modifying factors that might affect the penetrance of the mutation (e.g., the mutation carrier's environmental exposures or personal behaviors) or by the presence or absence of mutations in other genes related to the disease. For this reason, the clinical validity of this particular genetic test for a specific mutation may vary in different populations. For the molecular diagnostic of the disease caused by mutations in this gene, Centogene is offering hotspot testing, including mutations specific for various world populations, full gene sequencing and deletion/duplication testing, enabling identification of all previously reported mutations, as well as possible detection of other genetical changes.


Not provided

Clinical utility


Not provided

How to order


Order URL Help:

Test services

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

Support Center