PROGERIA AND PROGEROID SYNDROMES: CLINICAL EXOME PANEL (Sec. & CNVs) – 44 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Progeria and Progeroid Syndromes panel analyzes 44 genes involved in inherited disorders characterized by premature aging and skin, bone, cardiovascular, and metabolic involvement. It includes the study of Hutchinson-Gilford syndrome (classic progeria) caused by mutations in LMNA or ZMPSTE24, as well as other progeroid forms related to DNA repair (WRN, BLM, ERCC), connective tissue abnormalities (COL3A1, FBN1, GORAB), and metabolic disorders with lipodystrophy and insulin resistance (PPARG, AGPAT2, CAV1). Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies variants in genes that affect nuclear integrity, genomic stability, and cell signaling, providing essential information for the diagnosis and multidisciplinary management of these rare syndromes. Some of the genes included are LMNA, WRN, BLM, ZMPSTE24, ERCC6, PPARG, and PYCR1, among others. You can consult the complete list of genes by contacting Genotica.
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