Galactosemia Galactosemia Galactosemia Newborn screening (NBS) panels in all 50 states include galactosemia. For patients identified through NBS as at risk for galactose-1-phosphate uridylyltransferase (GALT) deficiency, EGL Genetics recommends measuring the activity of red blood cell (RBC) GALT and the metabolite galactose-1-phosphate (GAL-1-P). If deficient GALT activity (the most common form of galactosemia) and/or elevated Gal-1-P are detected, confirmatory molecular analysis by GALT gene sequencing and testing for the common 5kb deletion can be initiated using DNA extracted from the same sample, upon request.
If NBS reveals normal GALT activity but elevated galactose, EGL Genetics offers enzymatic panels to detect deficiencies in galactokinase (GALK) activity. Confirmatory molecular testing is also recommended to identify mutations in patients diagnosed with either enzymatic deficiency.
NBS methods vary by state, and may not detect all defects in galactose metabolism. If galactosemia is suspected, particularly a variant form, clinical enzyme analysis and molecular confirmation is available for patients of any age. The combination of biochemical and molecular testing assures an almost 100% detection rate for galactosemia.
If a diagnosis of galactosemia is made, clinical monitoring is available through measurement of RBC GAL-1-P and urinary galactitol levels. EGL Genetics can interpret these results in the context of the individual’s known enzyme deficiency.
EGL Genetics also offers a targeted CGH array with deletion/duplication analysis of the GALT gene, when mutations are not detected by gene sequencing. Combined enzymatic and full-gene sequencing or if appropriate, targeted sequencing analysis for carrier testing of family members, is also recommended to provide families with reproductive risk information.
Test Code Test Name CPT®** Codes GL Galactosemia: Galactitol Quantitative, Urine 82570 (x1), 84378 (x1) GR Galactosemia, Classic: Carrier Testing (GALT Enzyme Activity), Red Blood Cells 82775 (x1) GS Galactosemia: Classic Galactosemia Panel 82775 (x1), 84311 (x1), 84378 (x1) GT Galactosemia: GALT Enzyme Activity 82487 (x1), 82775 (x1), 85018 (x1) GP Galactose-1-Phosphate Profile 84378 (x1) GK Galactosemia (Galactokinase Deficiency): GALK Enzyme Activity 82658 (x1), 82759 (x1), 84311 (x1) SG Galactosemia: GALT Full Gene Sequencing 81406 (x1) DGALT Galactosemia: GALT Gene Deletion/Duplication 81228 (x1) JU Galactosemia (Epimerase): GALE Full Gene Sequencing 81479 (x1) JV Galactosemia (Epimerase): GALE Gene Deletion/Duplication 81228 (x1) IQ Galactosemia (Galactokinase Deficiency): GALK1 Full Gene Sequencing 81479 (x1) JA Galactosemia (Galactokinase Deficiency): GALK1 Gene Deletion/Duplication 81228 (x1) **CPT® is a registered trademark of the American Medical Association. Galactosemia GalactosemiaGalactosemia AboutAbout EGL EGL Genetics Genetics EGLEGL Genetics Genetics specializes specializes in in genetic genetic diagnostic diagnostic testing, testing, with with ne nearlyarly 50 50 years years of of clinical clinical experience experience and and board-certified board-certified labora laboratorytory directorsdirectors and and genetic genetic counselors counselors reporting reporting out out cases. cases. EGL EGL Genet Geneticsics offers offers a acombined combined 1000 1000 molecular molecular genetics, genetics, biochemical biochemical genetics,genetics, and and cytogenetics cytogenetics tests tests under under one one roof roof and and custom custom test testinging for for all all medically medically relevant relevant genes, genes, for for domestic domestic andand international international clients. clients. EquallyEqually important important to to improving improving patient patient care care through through quality quality genetic genetic testing testing is is the the contribution contribution EGL EGL Genetics Genetics makes makes back back to to the the scientificscientific andand medicalmedical communities.communities. EGL EGL Genetics Genetics is is one one of of only only a a fewfew clinical clinical diagnostic diagnostic laboratories laboratories to to openly openly share share data data with with thethe NCBI NCBI freely freely available available public public database database ClinVar ClinVar (>35,000 (>35,000 variants variants on on >1700 >1700 genes) genes) and and is isalso also the the only only laboratory laboratory with with a freea free onlineonline database database (EmVClass), (EmVClass), featuring featuring a avariant variant classification classification search search and and report report request request interface, interface, which which facilitates facilitates rapid rapid interactiveinteractive curation curation andand reportingreporting of of variants. variants. EGLEGL Genetics Genetics Galactosemia Galactosemia Diagnosis Diagnosis Algorithm Algorithm
NBS:NBS: ↓ ↓ GALT GALT Enz. Enz. NBS:NBS: nl nGALTl GALT Enz. Enz. (Total(Total Gal Gal Not Not Determined) Determined) (↑( ↑Total Total Gal Gal) )
GalactosemiaGalactosemia Panel Panel Gal-1-PGal-1-P (GALT(GALT Enz., Enz., Gal-1-P) Gal-1-P)
If GALTIf GALT enz. enz. is nlis withnl with nl ornl or ↑↑ Gal-1-P Gal-1-P and and galactosemia galactosemia GALTGALT Enz. Enz. <25%, <25%, GALTGALT Enz. Enz. >25%, >25%, is stillis still suspected suspected nln orl or ↑ ↑ Gal-1-P Gal-1-P nln Gal-1-Pl Gal-1-P
BiochemicalBiochemical BiochemicalBiochemical ReportReport Issued Issued ReportReport Issued Issued nl nGALTl GALT Enz., Enz., nl nGALTl GALT Enz., Enz., ↑↑ Gal-1-P Gal-1-P nl nGal-1-Pl Gal-1-P If Ifrequested, requested, fullfull gene gene sequencing sequencing willwill be be initiated initiated fromfrom the the same same GALEGALE Enzyme Enzyme GALKGALK Enzyme Enzyme samplesample Analysis*Analysis* Analysis*Analysis*
GALTGALT Sequencing Sequencing and and 5kb5kb Deletion Deletion Analysis Analysis BiochemicalBiochemical ReportReport Issued Issued If requested,If requested, ComprehensiveComprehensive fullfull gene gene sequencing sequencing ReportReport Issued Issued willwill be be initiated initiated (Molecular(Molecular and and Biochemical) Biochemical) fromfrom the the same same sample sample GALEGALE or orGALK GALK SequencingSequencing
ComprehensiveComprehensive ReportReport Issued Issued (Molecular(Molecular and and Biochemical) Biochemical)
*These*These tests tests may may be be ordered ordered as asa panel. a panel.
ForFor more more information information about about EGL EGL and and the the nearly nearly 1100 1100 tests tests we weoffer: offer: EMAILEMAIL CALLCALL WEBWEB [email protected]@emory.edu 404-778-8499404-778-8499 www.geneticslab.emory.eduwww.geneticslab.emory.edu