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Galactosemia Mutation Panel
| 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 |
| Self (patient) Price | $192.50 |
| Institutional Price | $192.50 |
| CPT Codes** | 81401(x1) |
**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.
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
| 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.
|
| 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. |