Galactosemia, GALT Gene, Full Gene Analysis, Varies - Mayo Clinic Laboratories Rochester

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions

Useful For

Identifying variants in individuals who test negative for the common variants and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 1 gene associated with galactosemia: GALT.

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for galactosemia.

Additional first tier testing may be considered/recommended. For more information see Galactosemia Testing Algorithm.

Disease States

Galactosemia

Testing Algorithm

See Galactosemia Testing Algorithm in Special Instructions.

Special Instructions

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.

Reporting Name

Galactosemia, Full Gene Analysis

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type	Temperature	Time	Special Container
Varies	Varies

Reference Values

An interpretive report will be provided.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81406

LOINC Code Information

Test ID	Test Order Name	Order LOINC Value
GALZ	Galactosemia, Full Gene Analysis	76037-1

Result ID	Test Result Name	Result LOINC Value
608596	Test Description	62364-5
608597	Specimen	31208-2
608598	Source	31208-2
608599	Result Summary	50397-9
608600	Result	82939-0
608601	Interpretation	69047-9
608602	Resources	99622-3
608603	Additional Information	48767-8
608604	Method	85069-3
608605	Genes Analyzed	48018-6
608606	Disclaimer	62364-5
608607	Released By	18771-6

NY State Approved

Yes

Day(s) Performed