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Test Code D0407
Test Summary

This test analyzes 1 variant of the HADHA gene

Turn-Around-Time (TAT)* 10  - 12 days
Acceptable Sample Types
Dried Blood Spots
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
Commercial Insurance
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

This test detects the 1528G>C variant of the HADHA gene associated with LCHAD deficiency

  • Individuals with symptoms of feeding problems, lethargy, hypoglycemia, hypotonia, liver problems, abnormalities of the retina, muscle pain, muscle breakdown, and peripheral neuropathy
  • Individuals with a family history of LCHAD deficiency

LCHAD deficiency is a disease that prevents the body from burning certain fats for energy. The age of onset is typically in infancy, and symptoms include feeding problems, lethargy, hypoglycemia, hypotonia, liver problems, abnormalities of the retina, muscle pain, muscle breakdown, and peripheral neuropathy. The disease also has increased heart problems, breathing difficulties, coma, and sudden death risks. The condition can be managed with a strict diet and avoiding periods of fasting. The incidence of LCHAD deficiency is unknown.

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).

Dried Blood Spots
Collection Container(s):

Dried blood spot card

Collection:

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

  • NBS: Please contact PKIG to request the StepOne® kit.
  • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
  • For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
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.