Congenital disorder of glycosylation, type It, 614921, Autosomal recessive; CDG1T(PGM1-CDG) … see more Congenital disorder of glycosylation, type It, 614921, Autosomal recessive; CDG1T(PGM1-CDG) (PGM1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)  see less
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000577880.1
INHERITED DISEASECARDIOVASCULARMETABOLIC DISEASE ... View more
Last updated in GTR: 2020-05-19
Last annual review date for the lab: 2022-05-14 Past due LinkOut
At a Glance
Diagnosis
PGM1-congenital disorder of glycosylation
Genes (1): Help
PGM1 (1p31.3)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Congenital disorder of glycosylation, type It, 614921, Autosomal recessive; CDG1T …
Not provided
Not provided
Ordering Information
Offered by: Help
Test Order Code: Help
3883
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Congenital disorder of glycosylation, type It, 614921, Autosomal recessive; CDG1T (diagnosis/ clinical suspition/ etiology investigation/ classification)
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity of this method was reported as 99,9996%. This value may change in some special DNA regions
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.