FOXRED1 Deletion/Duplication Analysis

Casandra

Casandra Test Code BA63342Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 2663CPT Code 81479

FOXRED1 Deletion/Duplication Analysis

Clinical Use

Use

The FOXRED1 Deletion/Duplication Analysis identifies pathogenic deletions and duplications linked to mitochondrial complex I deficiency, nuclear type 19 (MC1DN19). This condition arises from the dysfunction of mitochondrial protein complexes involved in oxidative phosphorylation. Symptoms can manifest variably, occurring from birth to adulthood, including neurological issues such as abnormal brain function, seizures, intellectual disability, ataxia, hypotonia, and dystonia. Elevated lactic acid levels lead to symptoms such as nausea, weakness, and in severe instances, can be life-threatening. Testing is indicated for patients with suspected MC1DN19, symptomatic patients with family histories, or those planning pregnancies in affected families.

Special Instructions

Testing can identify individuals who are carriers of the condition and inform family planning decisions. Patients should consult with their healthcare provider about the implications of testing. Specimen should be sent in a specific manner to ensure integrity. The test is important for those with a family history of the condition or current symptoms that warrant investigation.

Limitations

While deletion/duplication analysis provides insight into the FOXRED1 gene, it may not capture all pathogenic variants associated with MC1DN19. Negative results do not eliminate the possibility of the condition, as some alterations may be intronic or undetectable with this method. The analysis also relies on sample quality; improper handling or storage may compromise results. The test should be considered part of a broader diagnostic process inclusive of clinical evaluation and other testing methods.

Test Details