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Recommendations when to order or not order the test. May include related or preferred tests.
Use to detect pathogenic GALT gene variant(s) in individuals with decreased GALT enzyme activity to confirm carrier status or diagnosis of galactosemia. The preferred initial test to diagnose galactosemia or assess carrier status is Galactosemia (GALT) Enzyme Activity and 9 Mutations (0051175).
New York DOH Approval Status
Indicates whether a test has been approved by the New York State Department of Health.
Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.
Specimen Required
Patient PreparationInstructions patient must follow before/during specimen collection.
CollectSpecimen type to collect. May include collection media, tubes, kits, etc.
Lavender or pink (EDTA) or yellow (ACD solution A or B). New York State Clients: Lavender (EDTA)
Specimen PreparationInstructions for specimen prep before/after collection and prior to transport.
Transport 3 mL whole blood. (Min: 2 mL) New York State Clients: Transport 3 mL whole blood. (Min. 3 mL)
Storage/Transport TemperaturePreferred temperatures for storage prior to and during shipping to ARUP. See Stability for additional info.
Refrigerated.
Unacceptable ConditionsCommon conditions under which a specimen will be rejected.
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
RemarksAdditional specimen collection, transport, or test submission information.
StabilityAcceptable times/temperatures for specimens. Times include storage and transport time to ARUP.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable New York State Clients: Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Methodology
Process(es) used to perform the test.
Massively Parallel Sequencing
Performed
Days of the week the test is performed.
Varies
Reported
Expected turnaround time for a result, beginning when ARUP has received the specimen.
10-15 days
Reference Interval
Normal range/expected value(s) for a specific disease state. May also include abnormal ranges.
By report
Interpretive Data
May include disease information, patient result explanation, recommendations, or details of testing.
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Additional information related to the test.
Gene Tested: GALT (NM_000155)
Hotline History
N/A
CPT Codes
The American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
Other names that describe the test. Synonyms.
classic galactosemia
clinical variant galactosemia
D/G galactosemia
DNA testing for galactose-1-phosphate uridylytranserase (GALT) deficiency
Duarte variant galactosemia
Galactosemia (GALT) Sequencing and Deletion/Duplication
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