Galactosemia Mutation Panel

Omics test Model
Test Code D0405
Test Summary

This assay tests for 5 common mutations in the GALT gene, which is associated with galactosemia.
Turn Around Time 10 - 12 days
Acceptable Sample Types Dried Blood Spots
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved Yes
CPT Codes** 81401(x1)
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
This test is not available in your region Japan, please select your nearest laboratory to request more information.
Revvity Sites Globally

Select your location.

Test Inquiry
Test Code: D0405
Download PDF Version
General Biochemical and Molecular Requisition Form

Test Description

This test detects the p.N314D (Duarte), p.Q188R, p.S135L, p.K285N, and p.L195P (Classical) variants in the GALT gene.

Condition Description

Galactosemia is a condition that affects how the body processes a simple sugar called galactose. Galactose is present in many foods and is primarily a part of a larger sugar called lactose found in all dairy products and many baby formulas. The symptoms of galactosemia result from the body's inability to use galactose to produce energy. (NIH, genetics home reference)

Test Methods and Limitations

Gene analysis for the various targeted mutations is performed by polymerase chain reaction and melting curve analysis to detect the mutant and wild-type forms of the gene. Sequence-specific oligonucleotide probes are labeled with fluorescent dyes, which hybridize to their complementary sequence target in PCR products. The fluorescence resonance energy transfer (FRET) from one fluorophore to another adjacent fluorophore is measurable and is directly proportional to the amount of target DNA generated during PCR. Allele-specific melting curves are generated by slow thermal denaturing of the probe: template hybrid. Melting curves are generated by monitoring fluorescence throughout denaturation, and melting peaks are generated by plotting the inverse derivative of fluorescence versus temperature (−dF/dT).

Detailed Sample Requirements

Dried Blood Spots
Test Details Page
Collection Container(s) Dried blood spot card
Collection

Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
Sample Condition Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping Follow kit instructions. Double bag and ship overnight at ambient temperature.

Resources

General Biochemical and Molecular Requisition Form