ENPP1 and ABCC6 Genetic Testing (SP‑051)

Casandra

Casandra Test Code PG10992Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 7555

ENPP1 and ABCC6 Genetic Testing (SP‑051)

Clinical Use

Use

The test is aimed at identifying mutations in the ENPP1 and ABCC6 genes, which are implicated in rare genetic disorders such as Generalized Arterial Calcification of Infancy (GACI) and Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2). Mutations in the ENPP1 gene can lead to GACI Type 1 and ARHR2, characterized by extensive arterial calcifications and rickets-like bone symptoms. ABCC6 gene mutations result in GACI Type 2, with similar arterial calcifications impacting cardiovascular function. Early identification through genetic testing can guide appropriate management and potential treatment options.

Special Instructions

This genetic test is part of a no-cost program sponsored by Inozyme Pharma for eligible patients suspected of having GACI or ARHR2. Eligibility criteria include serious symptoms within the first 6 months such as arterial calcification and hypertension. The test is processed at PreventionGenetics and results are provided approximately 14 days after sample receipt. Shipping specimens requires a specific requisition form and international shipping instructions.

Limitations

The test is limited to the sequencing and deletion/duplication detection of the ENPP1 and ABCC6 genes only. It may not detect all genetic variants associated with the conditions or other potential causes of the symptoms. Interpretation of the results should be undertaken with caution, and it is advised that Healthcare Providers consult with genetic specialists for comprehensive patient management.

Test Details