Mobile Site ›

Test Catalog

Test ID: ML23K    
GNPTAB Gene, Known Mutation

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


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 when familial mutations have been previously identified, and genetic counseling for family members

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

Documentation of the specific familial mutations must be provided with the specimen in order to perform this test.

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo
AFCAmniotic Fluid Culture/Genetic TestYesNo
MCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

This test is for known mutations in the GNPTAB gene. If a familial mutation has not been identified, this known mutation test cannot be performed. To identify a familial mutation, order ML23S / GNPTAB Gene, Full Gene Analysis.


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


For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

Polymerase chain reaction (PCR) amplification/Universal primer sequencing of GNPTAB is used to test for the presence of a specific mutation previously identified in an affected family member.

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

GNPTAB Gene, Known Mutation

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