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Test Code GAL14 Galactosemia Gene Analysis (14-Mutation Panel)

Useful For

Second-tier test for confirming a diagnosis of galactosemia (indicated by enzymatic testing or newborn screening)

 

Carrier testing family members of an affected individual of known genotype (has mutations included in the panel)

 

Resolution of Duarte variant and Los Angeles (LA) variant genotypes

Testing Algorithm

Tests for the presence of the following 14 mutations in the GALT gene: -119_-116delGTCA, D98N, S135L, T138M, M142K, F171S, Q188R, L195P, Y209C, K285N, N314D, Q344K, c.253-2A>G, and 5 kb deletion.

 

See Galactosemia Testing Algorithm in Special Instructions.

Method Name

Multiplex Polymerase Chain Reaction (PCR)-Based Assay Utilizing the Agena Mass ARRAY Platform

Reporting Name

Galactosemia Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

 

Submit only 1 of the following specimens:

 

Preferred:

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)/Frozen/Refrigerated

 

Acceptable:

Specimen Type: Blood spot

Container/Tube: Whatman Protein Saver 903 Paper

Specimen Volume: 5 blood spots

Collection Instructions:

1. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

2. Do not expose specimen to heat or direct sunlight.

3. Do not stack wet specimens.

4. Keep specimen dry.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Specimen Minimum Volume

Blood: 1 mL
Blood Spots: 3

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Friday, Varies

Performing Laboratory

Mayo Medical 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 U.S. Food and Drug Administration.

CPT Code Information

81401-GALT (galactose-I-phosphate uridylyltransferase) (eg, galactosemia), full gene sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GAL14 Galactosemia Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
52878 Result Summary 50397-9
52879 Result 82939-0
52880 Interpretation 69047-9
52881 Specimen 31208-2
52882 Source 31208-2
52883 Method 49549-9
52884 Released By No LOINC Needed

Forms

1. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.