Test Catalog

Test ID: GNPTZ    
GNPTAB Gene, Full Gene Analysis, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Molecular diagnosis or carrier status of mucolipidosis II alpha/beta and mucolipidosis III alpha/beta in conjunction with identification of characteristic clinical, radiographic, and biochemical findings, and genetic counseling for family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Testing includes full gene sequencing of the GNPTAB gene.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.


See Lysosomal Storage Disorders Diagnostic Algorithm, Part 2 in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Amplification/Universal Primer Sequencing of GNPTAB for all Coding Exons

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

GNPTAB Gene, Full Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

Alpha and Beta Subunits
GNPTAB, N-Acetylglucosamine-1-Phosphate Transferase
GNPTAB-Related Mucolipidoses
I-Cell Disease
ML II Alpha/Beta
ML III Alpha/Beta
Mucolipidosis II Alpha/Beta
Mucolipidosis III Alpha/Beta
Pseudo-Hurler Polydystrophy